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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.Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.Human Mutation|October 18, 2018
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsyCheryl Shoubridge, Robert J Harvey, Tracy Dudding-BythPageof 578