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American Journal of Respiratory and Critical Care Medicine|April 29, 2015
Stress and Bronchodilator Response in Children with AsthmaJohn M Brehm, Sima K Ramratnam, Sze Man Tse, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Nature|May 14, 2013
De novo mutations in histone-modifying genes in congenital heart diseaseSamir Zaidi, Murim Choi, Hiroko Wakimoto, et al.
Circulation|December 21, 2021
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing StudyAndrew M Glazer, Giovanni Davogustto, Christian M Shaffer, et al.
Circulation|September 28, 2020
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran ProgramDerek Klarin, Shefali Setia Verma, Renae Judy, et al.
American Journal of Human Genetics|November 20, 2012
Copy-number disorders are a common cause of congenital kidney malformationsSimone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, et al.
Journal of the American College of Cardiology|January 30, 2016
Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization StudyTanya Keenan, Wei Zhao, Asif Rasheed, et al.
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