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Plos Genetics|May 8, 2015
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesDennis Lal, Ann-Kathrin Ruppert, Holger Trucks, et al.The European Respiratory Journal|July 5, 2014
Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesisJoanna Smolonska, Gerard H Koppelman, Cisca Wijmenga, et al.Genome Biology|February 5, 2015
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing dataLynnette Fernandez-Cuesta, Ruping Sun, Roopika Menon, et al.Translational Psychiatry|February 19, 2020
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder familiesAndreas J Forstner, Sascha B Fischer, Lorena M Schenk, et al.Nature Communications|March 28, 2014
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoidsLynnette Fernandez-Cuesta, Martin Peifer, Xin Lu, et al.Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.Brain : a Journal of Neurology|October 22, 2009
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesCarolien G F de Kovel, Holger Trucks, Ingo Helbig, et al.Pageof 52