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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2022
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathiesMatthew J O'Neill, Luca Sala, Isabelle Denjoy, et al.
European Heart Journal|September 10, 2021
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 regionPeter J Schwartz, Cristina Moreno, Maria-Christina Kotta, et al.
European Heart Journal|May 13, 2026
MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndromePeter J Schwartz, Annika Winbo, Luca Sala, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|November 17, 2023
Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndromeAlexander M Kaizer, Annika Winbo, Sally-Ann B Clur, et al.
Heart Rhythm|February 28, 2016
Impact of clinical and genetic findings on the management of young patients with Brugada syndromeAntoine Andorin, Elijah R Behr, Isabelle Denjoy, et al.
American Journal of Obstetrics and Gynecology|September 15, 2019
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international studyBettina F Cuneo, Alexander M Kaizer, Sally Ann Clur, et al.
American Journal of Physiology. Heart and Circulatory Physiology|March 21, 2020
Abnormal myocardial expression of SAP97 is associated with arrhythmogenic riskHassan Musa, Cherisse A Marcou, Todd J Herron, et al.
Circulation. Cardiovascular Genetics|July 17, 2013
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndromeSabine Duchatelet, Lia Crotti, Rachel A Peat, et al.
Heart Rhythm|December 15, 2024
Novel risk predictor of arrhythmias for patients with potassium channel-related congenital long QT syndromeChristian Krijger Juárez, Virginnio M Proost, Michael W Tanck, et al.
Circulation. Genomic and Precision Medicine|July 26, 2021
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 VariantsKrystian Kozek, Yuko Wada, Luca Sala, et al.
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