Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.

por Florentine S Hilbers, Caro M Meijers, Jeroen F J Laros, Michiel van Galen, Nicoline Hoogerbrugge, Hans F A Vasen, Petra M Nederlof, Juul T Wijnen, Christi J van Asperen, Peter Devilee
Publicado 2013

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