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Encyclopaedia
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Ear-patella-short stature syndrome
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Review article
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Early infantile developmental and epileptic encephalopathy
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Article for general public
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Clinical practice guidelines
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Review articleEnglish (2012) Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy - Pediatr neurol
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Clinical genetics review
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Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
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Clinical practice guidelines
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Early-onset autosomal dominant Alzheimer disease
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Clinical genetics review
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Early-onset cerebellar ataxia with retained tendon reflexes
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Article for general public
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Clinical practice guidelines
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Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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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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Clinical genetics review
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Early-onset generalized limb-onset dystonia
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Early-onset myopathy with fatal cardiomyopathy
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Clinical genetics review
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Early-onset obesity-hyperphagia-severe developmental delay syndrome
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Clinical practice guidelines
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Early-onset progressive encephalopathy with migrant continuous myoclonus
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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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Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
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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
Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
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Clinical practice guidelines
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Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
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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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EAST syndrome
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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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East Texas bleeding disorder
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Clinical practice guidelines
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Eastern equine encephalitis
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Clinical practice guidelines
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Eating reflex epilepsy
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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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Ebola hemorrhagic fever
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Article for general public
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Ebstein malformation of the tricuspid valve
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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
Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
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Ectasia of the left atrial appendage
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Clinical practice guidelines
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Ectasia of the right atrial appendage
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Clinical practice guidelines
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Ectodermal dysplasia-blindness syndrome
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Clinical practice guidelines
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Guidance for genetic testingEnglish (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
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Ectodermal dysplasia-skin fragility 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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Review article
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Disability factsheet
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Ectopia cordis
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Clinical practice guidelines
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Ectopic aldosterone-producing tumor
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Clinical practice guidelinesEnglish (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
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EDICT syndrome
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Clinical practice guidelines
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EEC syndrome
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Clinical genetics review
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Ehlers-Danlos syndrome
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
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Review article
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Ehlers-Danlos/osteogenesis imperfecta syndrome
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Emergency guidelines
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Anesthesia guidelines
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Diagnostic Keys
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Eiken syndrome
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Diagnostic Keys
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Eisenmenger syndrome
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Article for general public
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Anesthesia 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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Ellis Van Creveld syndrome
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Article for general public
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Anesthesia guidelines
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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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Emanuel syndrome
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Article for general public
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Clinical genetics review
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Embryonal carcinoma
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Article for general public
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Review article
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Embryonal carcinoma of the central nervous system
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Clinical practice guidelines
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Review article
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Embryonal rhabdomyosarcoma
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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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Embryonal tumor of neuroepithelial tissue
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Emery-Dreifuss muscular dystrophy
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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Enamel-renal syndrome
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Clinical practice guidelines
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Review article
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Encephalitis
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Clinical practice guidelines
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Encephalitis lethargica
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Clinical practice guidelines
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Encephalocraniocutaneous lipomatosis
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Clinical practice guidelines
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Clinical genetics review
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Encephalopathy due to sulfite oxidase deficiency
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Clinical genetics review
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Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
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Clinical practice guidelines
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Guidance for genetic testing
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Encircling double aortic arch
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Clinical practice guidelines
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Endemic pemphigus foliaceus
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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
English (2020) Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV) - J Eur Acad Dermatol Venereol
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Endocrine-cerebro-osteodysplasia 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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Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
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Review article
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Guidance for genetic testing
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Endogenous Cushing syndrome
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Clinical practice guidelines
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Endometrial stromal sarcoma
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Article for general public
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Endometrioid carcinoma of ovary
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Article for general public
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Enlarged parietal foramina
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Review articleEnglish (2013) Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment - Childs Nerv Syst
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Clinical genetics review
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Enthesitis-related juvenile idiopathic arthritis
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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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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Eosinophilic angiocentric 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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Eosinophilic fasciitis
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Clinical practice guidelines
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Eosinophilic gastroenteritis
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Emergency guidelines
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Eosinophilic granulomatosis with polyangiitis
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesFrançais (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
English (2020) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis - Arthritis Rheumatol
English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
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Review article
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Ependymal tumor
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Ependymoma
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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EPHB4-related lymphatic-related hydrops fetalis
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Clinical practice guidelines
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Epidermolysis bullosa acquisita
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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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Epidermolysis bullosa simplex
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Emergency guidelines
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Anesthesia guidelines
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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 (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
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 (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
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Review article
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Disability factsheet
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Epidermolysis bullosa simplex due to BP230 deficiency
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Anesthesia guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex due to exophilin 5 deficiency
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Anesthesia guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex with anodontia/hypodontia
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Emergency guidelines
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Anesthesia guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex with circinate migratory erythema
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Emergency guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex with extracutaneous involvement
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
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 (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
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 (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
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Epidermolysis bullosa simplex with mottled pigmentation
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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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Emergency guidelines
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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
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Clinical genetics review
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Disability factsheet
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Epidermolysis bullosa simplex with muscular dystrophy
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Emergency guidelines
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Anesthesia guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex with pyloric atresia
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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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Emergency guidelines
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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
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Disability factsheet
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Epidermolysis bullosa simplex without extracutaneous involvement
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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 (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
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 (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
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Epidermolytic nevus
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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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Patient-Centered Outcome Measures (PCOMs)
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Epignathus
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Clinical practice guidelines
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Epilepsy of infancy with migrating focal seizures
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Article for general public
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Clinical genetics review
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Epilepsy with auditory features
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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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Clinical genetics review
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Epilepsy with eyelid myoclonia
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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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Epilepsy with myoclonic absences
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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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Epilepsy with myoclonic-atonic seizures
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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 (2010) Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress - Dev Med Child Neurol
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Clinical genetics review
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Epilepsy with reading-induced seizures
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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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Episodic ataxia type 1
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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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Episodic ataxia type 3
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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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Episodic ataxia type 4
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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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Episodic ataxia type 5
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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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Episodic ataxia type 6
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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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Episodic ataxia type 7
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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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Episodic ataxia with slurred speech
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Article for general public
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Clinical practice guidelines
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Epithelial basement membrane dystrophy
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Review article
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Epithelial recurrent erosion dystrophy
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Review article
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Epithelial tumor of the appendix
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Clinical practice guidelines
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Epithelioid hemangioendothelioma
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Article for general public
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Review article
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Epithelioid sarcoma
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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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Epithelioid trophoblastic tumor
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Clinical practice guidelinesEnglish (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
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Epstein-Barr virus-associated gastric carcinoma
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Clinical practice guidelines
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Epstein-Barr virus-associated malignant lymphoproliferative disorder
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Review article
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Epstein-Barr virus-positive diffuse large B-cell lymphoma
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Review article
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Erdheim-Chester disease
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Anesthesia guidelines
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Clinical practice guidelines
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Review article
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Erythema multiforme major
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Article for general public
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Erythrocyte galactose epimerase deficiency
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Article for general public
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Clinical genetics review
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Erythrokeratodermia variabilis
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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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Erythropoietic uroporphyria associated with myeloid malignancy
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Anesthesia guidelines
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Esophageal atresia
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Article for general public
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Emergency guidelines
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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
English (2021) ERNICA Consensus Conference on the Management of Patients with Long-Gap Esophageal Atresia: Perioperative, Surgical, and Long-Term Management - Eur J Pediatr Surg
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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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Essential thrombocythemia
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Article for general public
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Clinical practice guidelinesEnglish (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
English (2010) Guideline for investigation and management of adults and children presenting with a thrombocytosis - Br J Haematol
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Review article
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Esthesioneuroblastoma
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Ethylmalonic encephalopathy
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Clinical genetics review
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Evans syndrome
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Clinical practice guidelines
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Exercise-induced hyperinsulinism
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Review article
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Exercise-induced malignant hyperthermia
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Emergency guidelines
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Review article
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Exfoliative ichthyosis
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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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Patient-Centered Outcome Measures (PCOMs)
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EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
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Clinical genetics review
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Exposure-related interstitial lung disease
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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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Exstrophy-epispadias complex
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Clinical practice guidelines
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Review article
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Extracutaneous mastocytoma
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Article for general public
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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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Extragonadal germ cell tumor
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Article for general public
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Review article
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Extragonadal germinoma
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Clinical practice guidelines
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Extragonadal non-dysgerminomatous germ cell tumor
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Article for general public
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Review article
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Extramammary Paget disease
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Clinical practice guidelinesEnglish (2021) Multidisciplinary Approach for the Management of Penoscrotal Extramammary Paget's disease -An eUROGEN study - Urol Oncol
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Extramedullary conus spinal cord lipoma
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Clinical practice guidelinesFrançais (2015) Prise en charge en médecine physique et de réadaptation du patient atteint de Spina Bifida - PNDS
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Extranodal nasal NK/T cell lymphoma
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Extrapelvic endometriosis
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Clinical practice guidelinesEnglish (2020) Clinical practice guidelines for the treatment of extragenital endometriosis in Japan, 2018 - J Obstet Gynaecol Res
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Extraskeletal Ewing sarcoma
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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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Patient-Centered Outcome Measures (PCOMs)
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Extraskeletal myxoid chondrosarcoma
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Article for general public
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Clinical practice guidelines
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Extraventricular neurocytoma
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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