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Blood|April 11, 2018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosisIvan K Chinn, Olive S Eckstein, Erin C Peckham-Gregory, et al.Biorxiv : the Preprint Server for Biology|December 25, 2025
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapesYang Zhang, Vinayak V Viswanadham, Michail Andreopoulos, et al.Plos One|June 27, 2019
Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencingJames S Floyd, Katarzyna M Bloch, Jennifer A Brody, et al.Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.American Journal of Human Genetics|July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesJessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.Nature Genetics|November 3, 2014
Trans-ancestry mutational landscape of hepatocellular carcinoma genomesYasushi Totoki, Kenji Tatsuno, Kyle R Covington, et al.American Journal of Human Genetics|June 17, 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasiaAsbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, et al.Cell|April 24, 2018
Chemistry-First Approach for Nomination of Personalized Treatment in Lung CancerElizabeth A McMillan, Myung-Jeom Ryu, Caroline H Diep, et al.The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.Pageof 117