A resource to explore the discovery of rare diseases and their causative genes

por Friederike Ehrhart, Egon L. Willighagen, Martina Kutmon, Max van Hoften, Leopold M. G. Curfs, Chris T. Evelo
Publicado 2021

Food-Related Brain Activation Measured by fMRI in Adults with Prader–Willi Syndrome

por Ingrid Caroline van Nieuwpoort, Tessa N. A. Slagboom, Sigridur Jakobsdóttir, Jan Berend Deijen, Dick J. Veltman, Leopold M. G. Curfs, Madeleine L. Drent
Publicado 2021

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

por Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Publicado 2021