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Genetics in Medicine Open|January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment testLaura M Amendola, Alison J Coffey, Josh Lowry, et al.
Human Mutation|December 2, 2017
Inactivation of AMMECR1 is associated with growth, bone, and heart alterationsMariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Clinical Pharmacology and Therapeutics|February 10, 2016
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE networkW S Bush, D R Crosslin, A Owusu-Obeng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
Clinical Pharmacology and Therapeutics|June 25, 2014
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systemsL J Rasmussen-Torvik, S C Stallings, A S Gordon, et al.
American Journal of Human Genetics|June 6, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic diseaseErin Thorpe, Taylor Williams, Chad Shaw, et al.
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