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Circulation. Heart Failure
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December 19, 2023
Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice
Bo Sun, Omid M T Rouzbehani, Ryan J Kramer, et al.
Circulation Research
|
February 18, 2025
<i>TAX1BP3</i> Causes TRPV4-Mediated Autosomal Recessive Arrhythmogenic Cardiomyopathy
Robin M Perelli, Enya R Dewars, Heidi Cope, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 12, 2024
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy
Sophie Hespe, Amber Waddell, Babken Asatryan, et al.
Journal of the American College of Cardiology
|
February 19, 2025
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Sophie Hespe, Amber Waddell, Babken Asatryan, et al.
Circulation. Genomic and Precision Medicine
|
July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
Ryan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 21, 2022
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
Josephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Genome Medicine
|
October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
JACC. Clinical Electrophysiology
|
November 20, 2020
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome
Jeremy P Moore, Roberto G Gallotti, Kevin M Shannon, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 10, 2024
Children and Adolescent Patients with Variants in the <i>ATP1A3</i> -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction
Meredith K Srour, Minu-Tshyeto K Bidzimou, Padmapriya Muralidharan, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
Circulation. Heart Failure
|
December 19, 2023
Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice
Bo Sun, Omid M T Rouzbehani, Ryan J Kramer, et al.
Circulation Research
|
February 18, 2025
<i>TAX1BP3</i> Causes TRPV4-Mediated Autosomal Recessive Arrhythmogenic Cardiomyopathy
Robin M Perelli, Enya R Dewars, Heidi Cope, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 12, 2024
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy
Sophie Hespe, Amber Waddell, Babken Asatryan, et al.
Journal of the American College of Cardiology
|
February 19, 2025
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Sophie Hespe, Amber Waddell, Babken Asatryan, et al.
Circulation. Genomic and Precision Medicine
|
July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
Ryan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 21, 2022
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
Josephina A N Meester, Silke Peeters, Lotte Van Den Heuvel, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
Genome Medicine
|
October 23, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, et al.
JACC. Clinical Electrophysiology
|
November 20, 2020
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome
Jeremy P Moore, Roberto G Gallotti, Kevin M Shannon, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 10, 2024
Children and Adolescent Patients with Variants in the <i>ATP1A3</i> -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction
Meredith K Srour, Minu-Tshyeto K Bidzimou, Padmapriya Muralidharan, et al.
Page
of 12