SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
Published 2017-01-01

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

by Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F.J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt
Published 2020-05-01