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The Journal of Biological Chemistry|April 15, 2008
A mutation in telethonin alters Nav1.5 functionAmelia Mazzone, Peter R Strege, David J Tester, et al.Journal of the American College of Cardiology|November 21, 2009
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysisArgelia Medeiros-Domingo, Zahurul A Bhuiyan, David J Tester, et al.Circulation. Genomic and Precision Medicine|May 22, 2019
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain SignificanceJohn R Giudicessi, Krystien V V Lieve, Ram K Rohatgi, et al.JCI Insight|March 15, 2017
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophyErin M Higgins, J Martijn Bos, Heather Mason-Suares, et al.Biochimica Et Biophysica Acta. Proteins and Proteomics|August 6, 2021
Mapping human calreticulin regions important for structural stabilityEvaldas Čiplys, Tautvydas Paškevičius, Eimantas Žitkus, et al.Heart Rhythm|November 19, 2021
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndromeSahej Bains, Steven M Dotzler, Christian Krijger, et al.Molecular Pharmacology|April 27, 2005
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndromeBrian P Delisle, Jessica K Slind, Jennifer A Kilby, et al.American Journal of Physiology. Heart and Circulatory Physiology|April 6, 2010
Properties of WT and mutant hERG K(+) channels expressed in neonatal mouse cardiomyocytesEric C Lin, Katherine M Holzem, Blake D Anson, et al.Journal of Cardiovascular Translational Research|February 24, 2019
Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium PerturbationsWei Zhou, J Martijn Bos, Dan Ye, et al.Heart Failure Clinics|September 28, 2010
Genetics of heart failure and sudden deathMatteo Vatta, Michael J AckermanPageof 69