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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

scientific article

The utility of phenomics in diagnosis of inherited metabolic disorders

Disease and pathway maps for Rare Diseases

Rare disease database

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016