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Nature Communications|August 15, 2019
Mutations in topoisomerase IIβ result in a B cell immunodeficiencyLori Broderick, Shawn Yost, Dong Li, et al.Nature Cardiovascular Research|August 28, 2024
Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous diseaseMichael G Levin, Jennifer E Huffman, Anurag Verma, et al.JCI Insight|December 9, 2025
Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral refluxMiguel Verbitsky, Pavan Khosla, Daniel Bivona, et al.American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.American Journal of Respiratory and Critical Care Medicine|September 10, 2016
Identification of Four Novel Loci in Asthma in European American and African American PopulationsBerta Almoguera, Lyam Vazquez, Frank Mentch, et al.BMC Medical Informatics and Decision Making|January 29, 2022
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitionsJingzhi Yu, Jennifer A Pacheco, Anika S Ghosh, et al.Scientific Reports|July 22, 2022
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsivenessJaehyun Joo, Angel C Y Mak, Shujie Xiao, et al.American Journal of Obstetrics and Gynecology|January 16, 2022
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndromePe'er Dar, Bo Jacobsson, Rebecca Clifton, et al.The Journal of Molecular Diagnostics : JMD|May 16, 2017
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx StudyLaura J Rasmussen-Torvik, Berta Almoguera, Kimberly F Doheny, et al.Human Molecular Genetics|June 16, 2018
Pathogenic variant in EPHB4 results in central conducting lymphatic anomalyDong Li, Tara L Wenger, Christoph Seiler, et al.Pageof 91