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American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.American Journal of Human Genetics|October 23, 2012
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing lossSimon von Ameln, Geng Wang, Redouane Boulouiz, et al.American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.JAMA Oncology|December 30, 2016
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast CancerGuido Neidhardt, Jan Hauke, Juliane Ramser, et al.Molecular Vision|June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testingJohn Neidhardt, Esther Glaus, Birgit Lorenz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.Genes|June 2, 2021
Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and <i>CENPJ</i>Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, et al.Nature Genetics|July 17, 2007
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone diseaseStephan Buch, Clemens Schafmayer, Henry Völzke, et al.Plos One|August 28, 2018
Rare gene deletions in genetic generalized and Rolandic epilepsiesKamel Jabbari, Dheeraj R Bobbili, Dennis Lal, et al.Pageof 52