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Human Mutation|May 12, 2017
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathyAndreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, et al.Circulation|May 29, 2008
Mutations in sarcomere protein genes in left ventricular noncompactionSabine Klaassen, Susanne Probst, Erwin Oechslin, et al.Biochemical and Biophysical Research Communications|July 16, 2026
Mutational mapping of sequence variants within the arginine- and serine-rich domain of RNA binding motif protein 20Joline Groß, Caroline Wiebe, Elina Felski, et al.Genes|December 2, 2020
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant GenesKatharina Sielemann, Zaher Elbeck, Anna Gärtner, et al.Clinical Genetics|October 1, 2019
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3Jirko Kühnisch, Christopher Herbst, Nadya Al-Wakeel-Marquard, et al.The Canadian Journal of Cardiology|July 31, 2016
The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary RecruitmentAndrew D Krahn, Jeffrey S Healey, Brenda Gerull, et al.Circulation. Genomic and Precision Medicine|April 23, 2025
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly DefectMohammad A Ebrahim, Naser M Ali, Buthaina Y Albash, et al.Journal of Cell Science|January 3, 2023
Meeting report - Desmosome dysfunction and disease: Alpine desmosome disease meetingVolker Spindler, Brenda Gerull, Kathleen J Green, et al.Heart Rhythm|November 19, 2013
Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardiaMaria Vittoria Matassini, Andrew D Krahn, Martin Gardner, et al.International Journal of Cardiology|December 10, 2013
Titin mutation in familial restrictive cardiomyopathyYael Peled, Michael Gramlich, Guy Yoskovitz, et al.Pageof 12