Showing results (121-130 of 137) with videos related to

Sort By:
Pageof 14
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
European Journal of Medical Genetics|March 21, 2009
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human heightKaren Buysse, William Reardon, Lakshmi Mehta, et al.
European Journal of Human Genetics : EJHG|June 30, 2011
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysisIlse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, et al.
American Journal of Human Genetics|November 14, 2007
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, et al.
European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.
American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Human Mutation|December 17, 2008
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1Frederick S Kaplan, Meiqi Xu, Petra Seemann, et al.
Human Genetics|June 20, 2002
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns, Markus Pfister, Ronald J E Pennings, et al.
Pageof 14