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Human Mutation|June 19, 2013
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing lossKerry K Brown, Lucas M Viana, Cecilia C Helwig, et al.
Circulation|August 1, 2014
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutationBerglind Adalsteinsdottir, Polakit Teekakirikul, Barry J Maron, et al.
Circulation. Cardiovascular Genetics|October 15, 2017
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsAllison L Cirino, Neal K Lakdawala, Barbara McDonough, et al.
Circulation. Genomic and Precision Medicine|September 5, 2020
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic CardiomyopathyAkl C Fahed, Georges Nemer, Fadi F Bitar, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 4, 2021
Discordant clinical features of identical hypertrophic cardiomyopathy twinsGiuliana G Repetti, Yuri Kim, Alexandre C Pereira, et al.
Circulation Research|April 10, 2010
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyAdam J Saltzman, Debora Mancini-DiNardo, Chumei Li, et al.
Circulation. Genomic and Precision Medicine|September 28, 2023
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart TransplantationYuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, et al.
Science Translational Medicine|January 25, 2019
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosinChristopher N Toepfer, Hiroko Wakimoto, Amanda C Garfinkel, et al.
The New England Journal of Medicine|February 23, 2007
Missense mutations in the BCS1L gene as a cause of the Björnstad syndromeJ Travis Hinson, Valeria R Fantin, Jost Schönberger, et al.
Circulation. Genomic and Precision Medicine|August 31, 2021
Contribution of Noncanonical Splice Variants to TTN Truncating Variant CardiomyopathyParth N Patel, Kaoru Ito, Jon A L Willcox, et al.
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