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Congenital Heart Disease
|
July 26, 2016
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome
Jaeger P Ackerman, John A Smestad, David J Tester, et al.
Channels (Austin, Tex.)
|
July 10, 2018
Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
Rou-Mu Hu, David J Tester, Ryan Li, et al.
Heart Rhythm O2
|
May 1, 2023
SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome
Maengjo Kim, Saumya Das, David J Tester, et al.
Heart Rhythm
|
May 31, 2025
The clinical and electrocardiographic phenotype of patients with genotype-negative long QT syndrome
Vanessa Karlinski Vizentin, Raquel Neves, Sahej Bains, et al.
Heart Rhythm
|
February 2, 2023
Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies
Marissa J Stutzman, Xiaozhi Gao, Maengjo Kim, et al.
Circulation Research
|
September 9, 2008
Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome
Harinath Sale, Jinling Wang, Thomas J O'Hara, et al.
Circulation. Arrhythmia and Electrophysiology
|
August 9, 2015
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death
Nicole J Boczek, Dan Ye, Fang Jin, et al.
Circulation
|
October 21, 2009
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
Suraj Kapa, David J Tester, Benjamin A Salisbury, et al.
Pediatric Neurology
|
January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
Derek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.
Heart Rhythm
|
July 5, 2005
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
Bi-Hua Tan, Carmen R Valdivia, Benjamin A Rok, et al.
Page
of 22
Search research articles
Search
Showing results (101-110 of 212) with videos related to
Sort By:
Page
of 22
Congenital Heart Disease
|
July 26, 2016
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome
Jaeger P Ackerman, John A Smestad, David J Tester, et al.
Channels (Austin, Tex.)
|
July 10, 2018
Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
Rou-Mu Hu, David J Tester, Ryan Li, et al.
Heart Rhythm O2
|
May 1, 2023
SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome
Maengjo Kim, Saumya Das, David J Tester, et al.
Heart Rhythm
|
May 31, 2025
The clinical and electrocardiographic phenotype of patients with genotype-negative long QT syndrome
Vanessa Karlinski Vizentin, Raquel Neves, Sahej Bains, et al.
Heart Rhythm
|
February 2, 2023
Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies
Marissa J Stutzman, Xiaozhi Gao, Maengjo Kim, et al.
Circulation Research
|
September 9, 2008
Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome
Harinath Sale, Jinling Wang, Thomas J O'Hara, et al.
Circulation. Arrhythmia and Electrophysiology
|
August 9, 2015
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death
Nicole J Boczek, Dan Ye, Fang Jin, et al.
Circulation
|
October 21, 2009
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
Suraj Kapa, David J Tester, Benjamin A Salisbury, et al.
Pediatric Neurology
|
January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
Derek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.
Heart Rhythm
|
July 5, 2005
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
Bi-Hua Tan, Carmen R Valdivia, Benjamin A Rok, et al.
Page
of 22