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Encyclopaedia
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L-2-hydroxyglutaric aciduria
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Clinical practice guidelines
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L-Arginine:glycine amidinotransferase deficiency
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Clinical genetics review
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L1 syndrome
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Clinical genetics review
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La Crosse encephalitis
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Clinical practice guidelines
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Lafora disease
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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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Emergency guidelines
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Clinical genetics review
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Laing distal myopathy
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Clinical genetics review
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Guidance for genetic testing
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Lambert-Eaton myasthenic syndrome
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Article for general public
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Clinical practice guidelinesEnglish (2010) Guidelines for treatment of autoimmune neuromuscular transmission disorders - Eur J Neurol
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Review articleEnglish (2011) LambertEaton myasthenic syndrome: from clinical characteristics to therapeutic strategies - Lancet Neurol
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Patient-Centered Outcome Measures (PCOMs)
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Lamellar ichthyosis
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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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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Laminin subunit alpha 2-related congenital muscular dystrophy
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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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Clinical genetics review
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Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
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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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Landau-Kleffner syndrome
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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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Emergency guidelines
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Clinical practice guidelines
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Review articleEnglish (2012) Electrical status epilepticus in sleep: clinical presentation and pathophysiology - Pediatr Neurol
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Clinical genetics review
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Langer mesomelic dysplasia
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Clinical genetics review
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Guidance for genetic testing
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Langerhans cell histiocytosis
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2013) Management of adult patients with Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net - Orphanet J Rare Dis
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Large/giant congenital melanocytic nevus
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Clinical practice guidelines
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Laron syndrome with immunodeficiency
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Clinical practice guidelines
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Larsen syndrome
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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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Laryngeal neuroendocrine tumor
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Article for general publicFrançais (2022) Cancers de la sphère ORL (voies aérodigestives supérieures) : les points clés - INCa
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Laryngo-onycho-cutaneous syndrome
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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) 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 (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
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Review article
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Clinical genetics review
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Disability factsheet
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Laryngotracheoesophageal cleft
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Review article
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Laryngotracheoesophageal cleft type 0
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Review article
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Laryngotracheoesophageal cleft type 1
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Review article
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Laryngotracheoesophageal cleft type 2
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Review article
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Laryngotracheoesophageal cleft type 3
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Review article
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Laryngotracheoesophageal cleft type 4
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Review article
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Late infantile CACH syndrome
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Review article
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Late-infantile/juvenile Krabbe disease
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Article for general public
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Review article
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Clinical genetics review
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Late-onset citrullinemia type I
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
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Clinical genetics review
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Late-onset distal myopathy, Markesbery-Griggs type
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Article for general public
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Late-onset isolated ACTH deficiency
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Clinical practice guidelines
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Late-onset junctional 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) 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
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Review article
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Clinical genetics review
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Disability factsheet
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Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
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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) 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
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Review article
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Clinical genetics review
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Disability factsheet
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Late-onset nephronophthisis
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Clinical genetics review
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Late-onset primary lymphedema without systemic or visceral involvement
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Clinical practice guidelines
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Late-onset Steinert myotonic dystrophy
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Article for general public
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Clinical practice guidelinesEnglish (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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Lateral meningocele syndrome
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Clinical genetics review
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Lathosterolosis
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Clinical genetics review
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Lattice corneal dystrophy type I
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Review article
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Laubry-Pezzi syndrome
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Clinical practice guidelines
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Laurence-Moon syndrome
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Clinical genetics review
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Leber congenital amaurosis
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Article for general public
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Clinical practice guidelines
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Clinical genetics reviewEnglish (2019) RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy - GeneReviews
English (2023) Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews
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Disability factsheet
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Leber hereditary optic neuropathy
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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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Clinical genetics review
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Disability factsheet
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Guidance for genetic testing
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Leber plus disease
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Clinical practice guidelines
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Review article
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Guidance for genetic testing
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Left sided atrial isomerism
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Clinical practice guidelines
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Left ventricular noncompaction
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Article for general public
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Clinical practice guidelines
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Guidance for genetic testing
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Legg-Calvé-Perthes disease
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Article for general public
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Legius syndrome
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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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Leigh syndrome
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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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Clinical genetics review
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Leiomyosarcoma
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Clinical practice guidelines
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Leiomyosarcoma of the cervix uteri
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Article for general public
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Leiomyosarcoma of the corpus uteri
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Article for general public
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Clinical practice guidelines
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Leishmaniasis
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Clinical practice guidelines
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Lennox-Gastaut syndrome
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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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Emergency guidelines
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Anesthesia guidelines
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Clinical genetics review
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Lenz-Majewski hyperostotic dwarfism
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Anesthesia guidelines
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Leprosy
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Anesthesia guidelines
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Lesch-Nyhan syndrome
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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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Clinical genetics review
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Disability factsheet
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Guidance for genetic testing
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Lethal acantholytic erosive disorder
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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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Lethal ataxia with deafness and optic atrophy
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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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Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
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Guidance for genetic testing
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Lethal hemolytic anemia-genital anomalies syndrome
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Clinical practice guidelinesEnglish (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
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Leukocyte adhesion deficiency
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Clinical practice guidelines
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Leukocyte adhesion deficiency type II
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Clinical genetics review
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Leukocyte adhesion deficiency type III
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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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Leukodystrophy
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Clinical practice guidelines
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Clinical genetics review
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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Leukoencephalopathy with calcifications and cysts
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Clinical practice guidelines
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Leukoencephalopathy with mild cerebellar ataxia and white matter edema
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Clinical practice guidelines
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Clinical genetics review
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Leukoencephalopathy-dystonia-motor neuropathy syndrome
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Clinical genetics review
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Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
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Review article
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Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
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Clinical genetics review
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Levocardia
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Clinical practice guidelines
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Lewis-Sumner syndrome
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Clinical practice guidelines
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Lhermitte-Duclos disease
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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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Review article
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Li-Fraumeni syndrome
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Clinical practice guidelinesEnglish (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
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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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Liddle syndrome
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Anesthesia guidelines
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Guidance for genetic testing
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LIG4 syndrome
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Clinical practice guidelines
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Review article
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Limb-girdle muscular dystrophy
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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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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Limb-girdle muscular dystrophy due to POMK deficiency
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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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Limb-mammary syndrome
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Clinical genetics review
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Limited cutaneous systemic sclerosis
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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 (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
English (2021) French recommendations for the management of systemic sclerosis - Orphanet J Rare Dis
English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
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Review articlePortuguês (2013) Recomendações sobre diagnóstico e tratamento da esclerose sistêmica - Rev Bras Reumatol
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Disability factsheet
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Diagnostic Keys
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Patient-Centered Outcome Measures (PCOMs)
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Limited dorsal myeloschisis
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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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Limited systemic sclerosis
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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 (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
English (2021) French recommendations for the management of systemic sclerosis - Orphanet J Rare Dis
English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
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Review articlePortuguês (2013) Recomendações sobre diagnóstico e tratamento da esclerose sistêmica - Rev Bras Reumatol
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Disability factsheet
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Diagnostic Keys
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Patient-Centered Outcome Measures (PCOMs)
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Linear IgA dermatosis
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Clinical practice guidelines
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Linear nevus sebaceus syndrome
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Clinical practice guidelines
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LIPE-related familial partial lipodystrophy
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Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
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Lipodystrophy due to peptidic growth factors deficiency
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Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
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Lipodystrophy-intellectual disability-deafness syndrome
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Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
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Diagnostic Keys
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Lipoic acid synthetase deficiency
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Clinical practice guidelines
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Lipoid proteinosis
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Clinical genetics review
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Lipoprotein glomerulopathy
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Clinical practice guidelines
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Liposarcoma
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Article for general public
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Clinical practice guidelines
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Lipoyl transferase 2 deficiency
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Clinical practice guidelines
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Lisch epithelial corneal dystrophy
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Review article
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Lissencephaly
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Review article
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Clinical genetics review
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Lissencephaly due to LIS1 mutation
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Clinical genetics review
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Lissencephaly due to TUBA1A mutation
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Article for general public
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Clinical genetics review
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Lissencephaly type 1 due to doublecortin gene mutation
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Clinical genetics review
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Livedoid vasculopathy
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Clinical practice guidelines
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Lobar holoprosencephaly
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Clinical genetics review
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Guidance for genetic testing
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Localized dystrophic epidermolysis bullosa
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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
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Localized dystrophic epidermolysis bullosa, acral form
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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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Clinical genetics review
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Disability factsheet
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Localized dystrophic epidermolysis bullosa, nails only
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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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Clinical genetics review
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Disability factsheet
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Localized dystrophic epidermolysis bullosa, pretibial form
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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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Clinical genetics review
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Disability factsheet
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Localized 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
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
-
-
Localized junctional 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) 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
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Review article
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Clinical genetics review
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Disability factsheet
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Localized pagetoid reticulosis
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Patient-Centered Outcome Measures (PCOMs)
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Localized scleroderma
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Article for general public
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Clinical practice guidelinesEnglish (2019) Consensus-based recommendations for the management of juvenile localised scleroderma - Ann Rheum Dis
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Loeys-Dietz syndrome
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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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Clinical genetics review
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Guidance for genetic testing
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Logopenic progressive aphasia
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Clinical practice guidelines
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Loiasis
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Clinical practice guidelines
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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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Emergency guidelinesFrançais (2023) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
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Clinical practice guidelinesFrançais (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
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Clinical genetics reviewEnglish (2022) Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency - GeneReviews
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Loose anagen syndrome
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Clinical practice guidelines
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Low phospholipid-associated cholelithiasis
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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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Low-grade astrocytoma
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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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Low-grade neuroendocrine tumor of the corpus uteri
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Article for general public
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Clinical practice guidelines
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Lower motor neuron syndrome with late-adult onset
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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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Lowry-Wood syndrome
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Clinical genetics review
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LRP5-related primary osteoporosis
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Diagnostic Keys
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Lujan-Fryns syndrome
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Anesthesia guidelines
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Clinical genetics review
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LUMBAR syndrome
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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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Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
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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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Lupus erythematosus panniculitis
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Clinical practice guidelines
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Lupus erythematosus tumidus
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Clinical practice guidelines
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Luscan-Lumish syndrome
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Clinical genetics review
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Lyme disease
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Article for general public
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Clinical practice guidelinesEnglish (2014) Evidence assessments and guideline recommendations in Lyme disease: the clinical management of known tick bites, erythema migrans rashes and persistent disease - Expert Rev Anti Infect Ther
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Lymphangioleiomyomatosis
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Article for general public
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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
English (2016) Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management - Am J Respir Crit Care Med
English (2010) European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis - Eur Respir J
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Review articleEnglish (2015) Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis - Clin Epidemiol
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Disability factsheet
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Lymphedema with yellow nails
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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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Lymphedema-distichiasis syndrome
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Clinical practice guidelines
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Clinical genetics review
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Lymphedema-posterior choanal atresia syndrome
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Clinical practice guidelinesEnglish (2022) The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations - Eur J Med Genet
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Lymphocytic hypereosinophilic syndrome
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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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Lymphoid 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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Lymphoma
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Patient-Centered Outcome Measures (PCOMs)
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Lymphomatoid granulomatosis
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Review article
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Lymphomatoid papulosis
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Patient-Centered Outcome Measures (PCOMs)
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Lymphoplasmacytic inflammatory pseudotumor of the liver
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Clinical practice guidelines
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Diagnostic Keys
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Lynch syndrome
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Clinical practice guidelinesEnglish (2021) European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender - Br J Surg
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Clinical genetics review
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Diagnostic criteriaEnglish (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability - J Natl Cancer Inst
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Guidance for genetic testing
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Lysinuric protein intolerance
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Article for general public
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Emergency guidelines
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Clinical genetics review
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Guidance for genetic testing
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Lysosomal acid lipase deficiency
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Clinical genetics review
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Lysosomal disease with hypertrophic cardiomyopathy
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Emergency guidelines
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Lysosomal storage disease with skeletal involvement
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Review article
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Léri-Weill dyschondrosteosis
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Clinical genetics review
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Guidance for genetic testing
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