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Trends in Biotechnology|January 26, 2020
Enabling Technologies for Personalized and Precision MedicineDean Ho, Stephen R Quake, Edward R B McCabe, et al.Journal of the American College of Cardiology|April 1, 2017
Autosomal Recessive Cardiomyopathy Presenting as Acute MyocarditisSerkan Belkaya, Amy R Kontorovich, Minji Byun, et al.Journal of the American Heart Association|March 4, 2026
Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational TrialFeria A Ladha, Christina VanderPluym, Enrique Mondragon-Estrada, et al.Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.HGG Advances|July 7, 2026
Identifying Genes Associated with Obstructive Congenital Heart Defects Using a Family-Based Genetic Random Field Method: Results from the National Birth Defects Prevention StudyManyan Huang, Nianjun Liu, Stephanie M Ware, et al.Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.Journal of the American Heart Association|March 3, 2025
Modeling <i>SMAD2</i> Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease PathogenesisTarsha Ward, Sarah U Morton, Gabriela Venturini, et al.JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genesJung Kim, Gina Ney, Megan N Frone, et al.Pageof 39