Detalhe da pesquisa
1.
RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Biochem J
; 480(17): 1379-1395, 2023 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492947
2.
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Circulation
; 141(6): 429-439, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941373
3.
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation
; 142(10): 932-947, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693635
4.
Genetic Testing in Pediatric Cardiomyopathy.
Pediatr Cardiol
; 39(3): 491-500, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29188317
5.
Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy.
Heart Rhythm
; 17(1): 106-112, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31229680