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American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.Human Mutation|November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersKathie J Ngo, Jessica E Rexach, Hane Lee, et al.Science (New York, N.Y.)|February 1, 2020
Genetics of schizophrenia in the South African XhosaS Gulsuner, D J Stein, E S Susser, et al.Biorxiv : the Preprint Server for Biology|July 3, 2026
Multi-Omics Study of Ancestry in Adults with Intracranial Cancers - Glioma (MOSAIC)Melissa L Bondy, Humaira Noor, Spiridon Tsavachidis, et al.American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.Heart Rhythm|November 19, 2013
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing StudyHonghuang Lin, Moritz F Sinner, Jennifer A Brody, et al.Genome Research|December 10, 2016
The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequencesCheng Xue, Muthuswamy Raveendran, R Alan Harris, et al.Nature|April 25, 2014
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulatorsDaniel W Bellott, Jennifer F Hughes, Helen Skaletsky, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 12, 2014
Mutational landscape of aggressive cutaneous squamous cell carcinomaCurtis R Pickering, Jane H Zhou, J Jack Lee, et al.Pageof 65