Publications
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Author Title [ Year
Filters: Author is Vilarinho, Sílvia and Keyword is Pedigree [Clear All Filters]
Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 71, 1879-1882 (2020).
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 63, 1977-86 (2016).
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 61, 1056-63 (2014).