Showing results (5341-5350 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|May 28, 2010
ARX spectrum disorders: making inroads into the molecular pathologyCheryl Shoubridge, Tod Fullston, Jozef GéczHuman Mutation|May 28, 2010
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2Kathrin Bengesser, David N Cooper, Katharina Steinmann, et al.Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.Human Mutation|September 20, 2006
The Italian XLMR bank: a clinical and molecular databaseC Pescucci, R Caselli, F Mari, et al.Human Mutation|September 23, 2006
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardationLiesbeth Rooms, Edwin Reyniers, R Frank KooyHuman Mutation|September 2, 2006
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNAEduardo Ruiz-Pesini, Douglas C WallaceHuman Mutation|October 17, 2006
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir, Marjan Huizing, Yair Anikster, et al.Human Mutation|October 17, 2006
Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitroGu-Hwan Kim, Jin-Ho Choi, Hyung-Haon Lee, et al.Human Mutation|October 17, 2006
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemiaAda Repiso, Baldomero Oliva, Joan-Lluis Vives-Corrons, et al.Human Mutation|April 27, 2007
Novel Plexor SNP genotyping technology: comparisons with TaqMan and homogenous MassEXTEND MALDI-TOF mass spectrometryE A Tindall, G Speight, D C Petersen, et al.Pageof 583