Showing results (1-10 of 3) with videos related to
Sort By:
Pageof 1
European Journal of Human Genetics : EJHG|September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionDiana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.Pageof 1