Showing results (1731-1740 of 5,822) with videos related to
Sort By:
Pageof 583
Human Mutation|August 28, 2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationBraden S Jensen, Tobias Willer, Dimah N Saade, et al.Human Mutation|November 5, 2015
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionEmily S Noël, Tarek S Momenah, Khalid Al-Dagriri, et al.Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.Human Mutation|October 29, 2015
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia PatientsRebeca Vindas-Smith, Michele Fiore, Melissa Vásquez, et al.Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.Human Mutation|June 10, 2016
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA SyndromeTarja Linnankivi, Nirajan Neupane, Uwe Richter, et al.Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.Human Mutation|May 10, 2019
Predicting the change of exon splicing caused by genetic variant using support vector regressionKen Chen, Yutong Lu, Huiying Zhao, et al.Human Mutation|May 22, 2019
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortexIsabel A Hemming, Olivier Clément, Ivan E Gladwyn-Ng, et al.Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.Pageof 583