Detalhe da pesquisa
1.
Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.
Pediatr Cardiol
; 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240762
2.
Genetic counseling for congenital heart disease - Practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 31(1): 9-33, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510635
3.
Inherited intragenic PBX1 deletion: Expanding the phenotype.
Am J Med Genet A
; 185(1): 234-237, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098248
4.
Sudden cardiac death in children and young adults without structural heart disease: a comprehensive review.
Rev Cardiovasc Med
; 21(2): 205-216, 2020 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706209
5.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18565486
6.
Molecular characterization of the calcium release channel deficiency syndrome.
JCI Insight
; 5(15)2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32663189
7.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
JAMA Cardiol
; 5(3): 13-18, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913406
8.
Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.
J Cardiovasc Dev Dis
; 4(3)2017 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367543
9.
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm.
Case Rep Genet
; 2014: 591516, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24711937