Orphanet

Results: 234



#Item
221Biology / Spinal muscular atrophies / SMN1 / Survival of motor neuron / SnRNP / Hypotonia / Chromosome 5 / SMN2 / Atrophy / Motor neurone disease / Anatomy / Health

D’Amico et al. Orphanet Journal of Rare Diseases 2011, 6:71 http://www.ojrd.com/content[removed]

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Source URL: www.biomedcentral.com

Language: English
222Tricho-hepato-enteric syndrome / Microvillous inclusion disease / Trichorrhexis nodosa / Cirrhosis / Small bowel bacterial overgrowth syndrome / Diarrhea / Health / Medicine / Rare diseases

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
223NSD1 / Weaver syndrome / Overgrowth syndrome / DiGeorge syndrome / Perlman syndrome / Chromosome 5 / Beckwith–Wiedemann syndrome / Dolichocephaly / Health / Syndromes / Sotos syndrome

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
224Proctology / Rectum / Congenital disorders / Pelvis / Imperforate anus / Digestive system / Fistula / Persistent cloaca / Bowel management / Medicine / Gastroenterology / Health

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
225Epithelial cells / Rare diseases / Pediatrics / Autoimmune diseases / Digestive system / Microvillous inclusion disease / Coeliac disease / Malabsorption / Epithelial dysplasia / Medicine / Health / Biology

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
226Gastrointestinal cancer / Plummer–Vinson syndrome / Syndromes / Esophageal web / Esophageal cancer / Iron deficiency anemia / Angular cheilitis / Cheilitis / Gastroesophageal reflux disease / Medicine / Gastroenterology / Health

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
227Marinesco–Sjögren syndrome / Blindness / Galactokinase deficiency / Cataract / Health / Congenital disorders / Genodermatoses

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
228Congenital muscular dystrophy / Fukutin / Dystroglycan / POMT1 / Laminin / Neuronal migration disorder / POMT2 / Dystrophin / Fukuyama congenital muscular dystrophy / Health / Muscular dystrophy / Walker–Warburg syndrome

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
229Biliary atresia / Hepatoportoenterostomy / Primary sclerosing cholangitis / Liver / Bile duct / Primary biliary cirrhosis / Jaundice / Cholestasis / Common bile duct / Medicine / Hepatology / Health

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
230Head and neck cancer / Lymphoepithelioma / Lung cancer / Metastasis / Carcinoma / TNM staging system / Epstein–Barr virus infection / Lymphoepithelioma-like carcinoma / Medicine / Oncology / Nasopharyngeal carcinoma

Orphanet Journal of Rare Diseases BioMed Central

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Source URL: www.ojrd.com

Language: English
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