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Encyclopaedia
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Iatrogenic Creutzfeldt-Jakob disease
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Clinical practice guidelines
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ICF syndrome
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Clinical practice guidelines
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Review article
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Ichthyosis
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Emergency guidelines
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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Ichthyosis follicularis-alopecia-photophobia syndrome
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Emergency guidelines
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Clinical practice guidelinesEnglish (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
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Review article
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Clinical genetics review
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Ichthyosis hystrix of Curth-Macklin
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Emergency guidelines
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Clinical practice guidelinesEnglish (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
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Article for general public
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Ichthyosis-hypotrichosis syndrome
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Ichthyosis-oral and digital anomalies syndrome
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Ichthyosis-prematurity syndrome
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Clinical genetics review
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Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
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Emergency guidelines
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Clinical practice guidelines
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Idiopathic achalasia
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Review article
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Idiopathic acute transverse myelitis
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Anesthesia guidelines
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Idiopathic aplastic anemia
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
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Idiopathic bilateral vestibulopathy
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Review article
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Idiopathic bronchiectasis
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Clinical practice guidelinesFrançais (2021) Bronchectasie de lenfant, diagnostic et prise en charge (hors mucoviscidose et dyskinésies ciliaires primitives) - PNDS
English (2018) Cross-infection risk in patients with bronchiectasis: a position statement from the European Bronchiectasis Network (EMBARC), EMBARC/ELF patient advisory group and European Reference Network (ERN-Lung) Bronchiectasis Network - Eur Respir J
English (2017) European Respiratory Society guidelines for the management of adult bronchiectasis - Eur Respir J
English (2021) European Respiratory Society guidelines for the management of children and adolescents with bronchiectasis - Eur Respir J
English (2017) Pulmonary exacerbation in adults with bronchiectasis: a consensus definition for clinical research - Eur Respir J
English (2019) Recommendations for travelling with bronchiectasis: a joint ELF/EMBARC/ERN-Lung collaboration - ERJ Open Res
English (2016) Research priorities in bronchiectasis: a consensus statement from the EMBARC Clinical Research Collaboration - Eur Respir J
English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
English (2018) Spanish Guidelines on the Evaluation and Diagnosis of Bronchiectasis in Adults - Arch Bronconeumol
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Idiopathic catatonia
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Clinical practice guidelines
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Diagnostic Keys
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Idiopathic CD4 lymphocytopenia
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Clinical practice guidelines
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Idiopathic chronic eosinophilic pneumonia
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Article for general public
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Emergency guidelines
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Review article
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Idiopathic congenital hypothyroidism
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Anesthesia guidelines
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Review article
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Guidance for genetic testing
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Idiopathic eosinophilic myositis
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Article for general public
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Idiopathic eosinophilic pneumonia
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Emergency guidelines
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Idiopathic hypercalciuria
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Clinical practice guidelines
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Idiopathic hypereosinophilic syndrome
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Article for general public
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Diagnostic Keys
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Emergency guidelines
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Clinical practice guidelines
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Review article
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Idiopathic hypersomnia
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Disability factsheet
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Idiopathic inflammatory myopathy
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Article for general public
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Anesthesia guidelines
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Idiopathic interstitial pneumonia
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Idiopathic juvenile osteoporosis
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Clinical practice guidelines
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Diagnostic Keys
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Idiopathic multicentric Castleman disease
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Review articleEnglish (2018) Novel insights and therapeutic approaches in idiopathic multicentric Castleman disease - Hematology Am Soc Hematol Educ Program
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Patient-Centered Outcome Measures (PCOMs)
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Idiopathic multidrug-resistant nephrotic syndrome
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Clinical practice guidelinesEnglish (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
English (2021) Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome - Pediatr Transplant
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Idiopathic nephrotic syndrome
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Article for general public
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Clinical practice guidelines
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Idiopathic non-lupus full-house nephropathy
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Clinical practice guidelinesEnglish (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
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Idiopathic panuveitis
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Patient-Centered Outcome Measures (PCOMs)
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Diagnostic Keys
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Idiopathic peliosis hepatis
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Clinical practice guidelines
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Idiopathic pleuroparenchymal fibroelastosis
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Idiopathic posterior uveitis
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Patient-Centered Outcome Measures (PCOMs)
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Idiopathic pulmonary arterial hypertension
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Idiopathic pulmonary artery dilatation
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Clinical practice guidelines
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Idiopathic pulmonary fibrosis
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2015) An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline: Treatment of Idiopathic Pulmonary Fibrosis. An Update of the 2011 Clinical Practice Guideline - Am J Respir Crit Care Med
English (2022) Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline - Am J Respir Crit Care Med
English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
English (2014) Diagnosis and management of idiopathic pulmonary fibrosis: French practical guidelines - Eur Respir Rev
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Review article
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Clinical genetics review
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Diagnostic criteriaEnglish (2011) An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management - Am J Respir Crit Care Med
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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Idiopathic pulmonary hemosiderosis
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Article for general public
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Idiopathic small fibers neuropathy
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Clinical practice guidelines
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Idiopathic steroid-resistant nephrotic syndrome
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Clinical practice guidelinesEnglish (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
English (2021) Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome - Pediatr Transplant
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Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
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Clinical practice guidelinesEnglish (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
English (2014) Canadian Society of Nephrology Commentary on the 2012 KDIGO clinical practice guideline for glomerulonephritis: management of nephrotic syndrome in children - Am J Kidney Dis
English (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome - Pediatr Nephrol
English (2021) Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome - Pediatr Transplant
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Idiopathic steroid-sensitive nephrotic syndrome
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Article for general public
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Clinical practice guidelinesEnglish (2013) Treatment of steroid-sensitive nephrotic syndrome: new guidelines from KDIGO - Pediatr Nephrol
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Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
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Clinical practice guidelinesEnglish (2013) Treatment of steroid-sensitive nephrotic syndrome: new guidelines from KDIGO - Pediatr Nephrol
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Idiopathic syringomyelia
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Clinical practice guidelines
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Idiopathic uveal effusion syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Idiopathic ventricular fibrillation, non Brugada type
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Clinical practice guidelines
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Guidance for genetic testing
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Idiopathic/heritable pulmonary arterial hypertension
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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IFIH1-related hereditary spastic paraplegia
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Clinical practice guidelines
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IgA pemphigus
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
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Review article
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IgG4-related aortitis
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related dacryoadenitis and sialadenitis
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Article for general public
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Diagnostic Keys
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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IgG4-related disease
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Article for general public
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Diagnostic Keys
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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IgG4-related kidney disease
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Article for general public
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Clinical practice guidelines
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Diagnostic Keys
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Review article
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Diagnostic criteria
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IgG4-related mediastinitis
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related mesenteritis
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related ophthalmic disease
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related pachymeningitis
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related retroperitoneal fibrosis
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related sclerosing cholangitis
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Article for general public
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Diagnostic Keys
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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IgG4-related submandibular gland disease
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IgG4-related systemic disease
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Clinical practice guidelines
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Diagnostic Keys
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IgG4-related thyroid disease
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Article for general public
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Clinical practice guidelines
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Review article
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Diagnostic criteria
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Diagnostic Keys
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IL21-related infantile inflammatory bowel disease
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Clinical practice guidelines
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Ileal neuroendocrine tumor
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Clinical practice guidelines
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IMAGe syndrome
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Clinical practice guidelinesEnglish (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
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Clinical genetics review
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Imerslund-Gräsbeck syndrome
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Review article
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Immune dysregulation disease with immunodeficiency
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Clinical practice guidelines
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Immune dysregulation with inflammatory bowel disease
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Clinical practice guidelines
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Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
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Clinical practice guidelines
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Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
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Clinical practice guidelines
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Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
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Article for general public
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Clinical practice guidelines
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Review articleEnglish (2012) Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity - Front Immunol
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Clinical genetics review
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Immune thrombocytopenia
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Article for general public
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelines
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Review article
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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Immune-mediated cerebellar ataxia
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Article for general public
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Clinical practice guidelines
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Immune-mediated necrotizing myopathy
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Article for general public
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Clinical practice guidelines
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Immune-mediated thrombotic thrombocytopenic purpura
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Emergency guidelines
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Clinical practice guidelinesEnglish (2012) Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies - Br J Haematol
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Review article
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Immuno-osseous dysplasia
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Clinical practice guidelines
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Immunodeficiency by defective expression of MHC class I
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Clinical practice guidelines
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Immunodeficiency by defective expression of MHC class II
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Clinical practice guidelines
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Immunodeficiency due to a classical component pathway complement deficiency
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Clinical practice guidelines
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Immunodeficiency due to a complement cascade component deficiency
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Clinical practice guidelines
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Immunodeficiency due to a complement cascade protein anomaly
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Clinical practice guidelines
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Immunodeficiency due to a complement regulatory deficiency
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Clinical practice guidelines
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Immunodeficiency due to a late component of complement deficiency
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Clinical practice guidelines
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Immunodeficiency due to CD25 deficiency
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Clinical practice guidelines
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Immunodeficiency due to ficolin3 deficiency
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Clinical practice guidelines
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Immunodeficiency due to MASP-2 deficiency
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Clinical practice guidelines
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Immunodeficiency due to selective anti-polysaccharide antibody deficiency
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Clinical practice guidelines
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Immunodeficiency predominantly affecting antibody production
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Clinical practice guidelines
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Immunodeficiency syndrome with autoimmunity
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Clinical practice guidelines
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Immunodeficiency with factor H anomaly
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Clinical practice guidelines
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Immunodeficiency with factor I anomaly
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Clinical practice guidelines
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Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
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Clinical practice guidelines
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Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
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Emergency guidelines
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Clinical practice guidelines
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Immunoglobulin A nephropathy
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Clinical practice guidelines
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Immunoglobulin A vasculitis
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Article for general public
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Review article
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Immunoglobulin heavy chain deficiency
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Clinical practice guidelines
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Immunoglobulin-mediated membranoproliferative glomerulonephritis
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Clinical practice guidelinesEnglish (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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Clinical practice guidelines
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Clinical genetics review
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Guidance for genetic testing
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Inclusion body myositis
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Article for general public
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Anesthesia guidelines
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Clinical practice guidelines
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Inclusion myopathy
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Clinical practice guidelines
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Incontinentia pigmenti
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Article for general public
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Clinical practice guidelinesEnglish (2020) Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti - J Eur Acad Dermatol Venereol
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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Indolent B-cell non-Hodgkin lymphoma
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Clinical practice guidelines
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Indolent primary cutaneous B-cell lymphoma
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Clinical practice guidelines
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Indolent primary cutaneous T-cell lymphoma
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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Indolent systemic mastocytosis
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
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Diagnostic Keys
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Review articleEnglish (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management - Am J Hematol
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Patient-Centered Outcome Measures (PCOMs)
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Infant botulism
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Review article
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Infantile cerebellar-retinal degeneration
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Clinical practice guidelines
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Clinical genetics review
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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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Clinical practice guidelines
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Infantile convulsions and choreoathetosis
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Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Infantile dystonia-parkinsonism
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Infantile glycine encephalopathy
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Article for general public
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Clinical genetics review
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Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
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Guidance for genetic testing
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Infantile hypophosphatasia
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Article for general public
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Emergency guidelines
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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Diagnostic Keys
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Infantile inflammatory bowel disease with neurological involvement
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Clinical practice guidelines
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Infantile Krabbe disease
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Article for general public
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Clinical practice guidelinesEnglish (2018) Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease - Orphanet J Rare Dis
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Review article
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Clinical genetics review
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Infantile LAD-like disease due to RAC2 deficiency
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Clinical practice guidelines
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Infantile multisystem neurologic-endocrine-pancreatic disease
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Anesthesia guidelines
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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Infantile nephronophthisis
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Clinical practice guidelines
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Clinical genetics review
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Infantile nephropathic cystinosis
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Article for general public
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Clinical practice guidelinesEnglish (2016) 'Controversies and research agenda in nephropathic cystinosis: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
English (2019) Management of bone disease in cystinosis: Statement from an international conference - J Inherit Metab Dis
English (2014) Nephropathic cystinosis: an international consensus document - Nephrol Dial Transplant
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Review article
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Clinical genetics review
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Diagnostic Keys
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Infantile neuroaxonal dystrophy
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Article for general public
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Clinical practice guidelinesFrançais (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
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Review article
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Clinical genetics review
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Infantile neurovisceral acid sphingomyelinase deficiency
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Clinical practice guidelines
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Clinical genetics review
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Infantile osteopetrosis with neuroaxonal dysplasia
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Article for general public
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Anesthesia guidelines
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Review article
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Infantile Refsum disease
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Infantile spasms-broad thumbs syndrome
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Emergency guidelines
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Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
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Emergency guidelines
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Infantile systemic hyalinosis
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Clinical genetics review
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Infantile-onset ascending hereditary spastic paralysis
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
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Article for general public
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Clinical practice guidelines
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Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
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Article for general publicEspañol (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
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Infantile-onset periodic fever-panniculitis-dermatosis syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
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Clinical practice guidelines
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Infantile-onset spinocerebellar ataxia
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Infantile-onset X-linked spinal muscular atrophy
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Anesthesia guidelines
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Infection-related hemolytic uremic syndrome
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Clinical practice guidelines
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Infectious anterior uveitis
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Patient-Centered Outcome Measures (PCOMs)
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Infectious disease of the nervous system
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Clinical practice guidelines
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Infectious embryofetopathy
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Clinical practice guidelines
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Infectious encephalitis
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Clinical practice guidelines
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Infectious panuveitis
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Patient-Centered Outcome Measures (PCOMs)
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Infectious posterior uveitis
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Patient-Centered Outcome Measures (PCOMs)
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Inferior vena cava interruption without azygos continuation
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Clinical practice guidelines
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Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
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Clinical practice guidelines
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Inflammatory myopathy with abundant macrophages
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Article for general public
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Inflammatory pseudotumor of the liver
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Article for general public
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Review article
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Diagnostic criteria
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Inherited acute myeloid leukemia
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Article for general public
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Clinical practice guidelinesEnglish (2023) European standard clinical practice Key issues for the medical care of individuals with familial leukemia - Eur J Med Genet
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Inherited arrhythmogenic cardiomyopathy
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Article for general public
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
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Review article
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Clinical genetics review
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Guidance for genetic testing
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Inherited Creutzfeldt-Jakob disease
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Inherited epidermodysplasia verruciformis
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Clinical practice guidelines
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Inherited epidermolysis bullosa
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Article for general public
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
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Review article
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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Inherited human prion disease
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Clinical genetics review
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Inherited ichthyosis
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Emergency guidelines
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Clinical practice guidelinesEnglish (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Inherited ichthyosis syndromic form
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
-
Clinical genetics review
-
-
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
-
Clinical practice guidelinesEnglish (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
-
-
Inherited isolated arrhythmogenic cardiomyopathy
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
-
Review article
-
Clinical genetics review
-
-
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2020) 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines - Circulation
English (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
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Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2019) 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy - Heart Rhythm
-
Review article
-
Clinical genetics review
-
-
Inherited non-syndromic ichthyosis
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Inherited renal cancer-predisposing syndrome
-
Clinical practice guidelines
-
-
Inherited retinal disorder
-
Article for general public
-
Clinical practice guidelines
-
-
Insulin-resistance syndrome type A
-
Clinical genetics review
-
-
Insulinoma
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Review article
-
-
Intellectual disability syndrome due to a DYRK1A point mutation
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Intellectual disability-brachydactyly-Pierre Robin syndrome
-
Clinical practice guidelines
-
-
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
-
Clinical practice guidelines
-
-
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
-
Clinical genetics review
-
-
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
-
Clinical genetics review
-
-
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
-
Guidance for genetic testing
-
-
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
-
Clinical genetics review
-
-
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
-
Clinical genetics review
-
-
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
-
Clinical practice guidelines
-
-
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
-
Clinical practice guidelines
-
-
Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome
-
Article for general public
-
Clinical genetics review
-
-
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
-
Clinical genetics review
-
-
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
-
Emergency guidelines
-
-
Intellectual disability-seizures-macrocephaly-obesity syndrome
-
Clinical practice guidelines
-
-
Interatrial communication
-
Clinical practice guidelines
-
-
Intermediate atrioventricular septal defect
-
Clinical practice guidelines
-
-
Intermediate Charcot-Marie-Tooth disease
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Intermediate collagen VI-related muscular dystrophy
-
Clinical practice guidelines
-
-
Intermediate DEND syndrome
-
Article for general public
-
-
Intermediate epidermolysis bullosa simplex with cardiomyopathy
-
Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Clinical practice guidelinesEnglish (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
-
-
Intermediate generalized junctional epidermolysis bullosa
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
-
Intermediate maple syrup urine disease
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2014) Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach - Mol Genet Metab
-
Clinical genetics review
-
-
Intermediate nemaline myopathy
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Intermediate osteopetrosis
-
Article for general public
-
Anesthesia guidelines
-
Review article
-
Clinical genetics review
-
-
Intermediate severe Salla disease
-
Article for general public
-
Review article
-
Clinical genetics review
-
-
Intermediate uveitis
-
Article for general public
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Intermittent maple syrup urine disease
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2014) Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach - Mol Genet Metab
-
Clinical genetics review
-
-
Interstitial cystitis
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Interstitial lung disease
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
Diagnostic Keys
-
-
Interstitial lung disease due to ABCA3 deficiency
-
Clinical practice guidelines
-
-
Interstitial lung disease due to SP-C deficiency
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Interstitial lung disease in childhood and adulthood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Interstitial lung disease specific to adulthood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Interstitial lung disease specific to childhood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
-
Interstitial lung disease specific to infancy
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
-
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
-
Review article
-
Clinical genetics review
-
-
Interventricular septum aneurysm
-
Clinical practice guidelines
-
-
Intestinal polyposis syndrome
-
Clinical practice guidelines
-
-
Intractable diarrhea of infancy
-
Review article
-
-
Intraductal papillary mucinous carcinoma of pancreas
-
Article for general public
-
Clinical practice guidelines
-
Review article
-
-
Intrahepatic cholestasis of pregnancy
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Intravascular large B-cell lymphoma
-
Review article
-
-
Invasive mole
-
Clinical practice guidelinesEnglish (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
-
-
Inverse Klippel-Trénaunay syndrome
-
Review article
-
-
Inverted duplicated chromosome 15 syndrome
-
Article for general public
-
Review article
-
-
IRVAN syndrome
-
Review articleEnglish (2017) Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: clinical perspectives - Clin Ophthalmol
-
-
Isaacs syndrome
-
Article for general public
-
Clinical practice guidelinesEnglish (2010) Guidelines for treatment of autoimmune neuromuscular transmission disorders - Eur J Neurol
-
-
Isolated absence of both forearm and hand
-
Clinical practice guidelines
-
-
Isolated absence of upper arm and forearm with hand present
-
Anesthesia guidelines
-
-
Isolated aniridia
-
Article for general public
-
Clinical practice guidelines
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Isolated arrhinia
-
Clinical practice guidelines
-
-
Isolated biliary atresia
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Review article
-
-
Isolated bone marrow mastocytosis
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
-
Diagnostic Keys
-
Review articleEnglish (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management - Am J Hematol
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Isolated childhood apraxia of speech
-
Clinical genetics review
-
-
Isolated cleft lip
-
Clinical practice guidelinesEnglish (2019.pdf) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - ERN Cranio
English (2022) Clinical Practice Guidelines for the Management of Patients With Cleft Lip and Palate: A Systematic Quality Appraisal Using the Appraisal of Guidelines for Research and Evaluation II Instrument - J Craniofac Surg
Nederlands (2019) Clinical Practice Guideline on Treatment of Patients with Clefts of the Lip and Palate - Federatie Medisch Specialisten
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Isolated complex I deficiency
-
Clinical practice guidelinesEnglish (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
-
-
Isolated congenital hypogonadotropic hypogonadism
-
Review article
-
Guidance for genetic testing
-
-
Isolated congenital microcephaly
-
Clinical practice guidelines
-
-
Isolated congenitally uncorrected transposition of the great arteries
-
Article for general public
-
Clinical practice guidelinesFrançais (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Français (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
-
-
Isolated constitutional thrombocytopenia
-
Clinical practice guidelines
-
-
Isolated Dandy-Walker malformation
-
Article for general public
-
-
Isolated Dandy-Walker malformation with hydrocephalus
-
Article for general public
-
-
Isolated Dandy-Walker malformation without hydrocephalus
-
Article for general public
-
-
Isolated delta-storage pool disease
-
Clinical practice guidelines
-
-
Isolated dystonia
-
Clinical practice guidelines
-
-
Isolated ectopia lentis
-
Article for general public
-
Clinical genetics review
-
-
Isolated epispadias
-
Clinical practice guidelines
-
Review article
-
-
Isolated follicle stimulating hormone deficiency
-
Clinical practice guidelines
-
Review article
-
Guidance for genetic testing
-
-
Isolated glycerol kinase deficiency
-
Emergency guidelines
-
-
Isolated hereditary giant platelet disorder
-
Clinical practice guidelines
-
-
Isolated hyperchlorhidrosis
-
Emergency guidelines
-
-
Isolated Klippel-Feil syndrome
-
Article for general public
-
Anesthesia guidelines
-
-
Isolated micronodular adrenocortical disease
-
Clinical practice guidelines
-
-
Isolated microphthalmia-anophthalmia-coloboma
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Isolated multiple intestinal atresia
-
Clinical practice guidelines
-
-
Isolated neonatal sclerosing cholangitis
-
Clinical practice guidelines
-
-
Isolated optic nerve hypoplasia
-
Article for general public
-
-
Isolated osteopoikilosis
-
Article for general public
-
Anesthesia guidelines
-
-
Isolated oxidative phosphorylation complex disorder
-
Clinical practice guidelines
-
-
Isolated permanent neonatal diabetes mellitus
-
Article for general public
-
Clinical genetics review
-
-
Isolated Pierre Robin sequence
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2024) European Guideline Robin Sequence An Initiative From the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO) - J Craniofac Surg
English (2020) International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations - Int J Pediatr Otorhinolaryngol
-
-
Isolated polycystic liver disease
-
Clinical practice guidelinesEnglish (2022) EASL Clinical Practice Guidelines on the management of cystic liver diseases - J Hepatol
-
Review article
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Isolated posterior meningocele
-
Clinical practice guidelinesFrançais (2020) Dysraphisme spinal (Spina Bifida) - prise en charge urologique à l'âge adulte - PNDS
-
-
Isolated primary pigmented nodular adrenocortical disease
-
Clinical practice guidelines
-
-
Isolated pulmonary artery sling
-
Clinical practice guidelines
-
-
Isolated pulmonary capillaritis
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Isolated radial hemimelia
-
Clinical practice guidelines
-
-
Isolated right ventricular hypoplasia
-
Clinical practice guidelines
-
-
Isolated split hand-split foot malformation
-
Clinical genetics review
-
-
Isolated succinate-CoQ reductase deficiency
-
Clinical practice guidelines
-
-
Isolated sulfite oxidase deficiency
-
Clinical genetics review
-
-
Isolated thyroid-stimulating hormone deficiency
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
English (2018) 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism - Eur Thyroid J
-
Review article
-
Guidance for genetic testing
-
-
Isolated thyrotropin-releasing hormone deficiency
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
English (2018) 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism - Eur Thyroid J
-
Review article
-
Guidance for genetic testing
-
-
Isolated tracheoesophageal fistula
-
Clinical practice guidelinesEnglish (2020) ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Follow-up and Framework - Eur J Pediatr Surg
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Isolated ulnar hemimelia
-
Clinical practice guidelines
-
-
Isovaleric acidemia
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
-
ISPD-related limb-girdle muscular dystrophy R20
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
ITM2B amyloidosis
-
Article for general public
-
-
IVIC syndrome
-
Guidance for genetic testing
-