Detalles de la búsqueda
1.
Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors.
Europace
; 22(4): 622-631, 2020 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32091595
2.
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.
Heart Rhythm
; 20(5): 709-717, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36731785
3.
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Stem Cell Reports
; 17(9): 2023-2036, 2022 09 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35931078
4.
Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication.
HeartRhythm Case Rep
; 5(3): 163-168, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30891416
Resultados
1 -
4
de 4
1
Próxima >
>>