Detalhe da pesquisa
1.
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
BMC Cardiovasc Disord
; 23(1): 487, 2023 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794383
2.
Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family.
Cardiol Young
; : 1-6, 2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782032
3.
Whole -exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family - CORRIGENDUM.
Cardiol Young
; : 1, 2021 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865674
4.
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Lab Med
; 55(1): 62-70, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246508
5.
The association between in vitro fertilization and intracytoplasmic sperm injection treatment and the risk of congenital heart defects.
J Matern Fetal Neonatal Med
; 35(25): 7471-7485, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233556
6.
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Lab Med
; 53(6): 640-650, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35686496
7.
Chromosome 9 Inversion: Pathogenic or Benign? A Comprehensive Systematic Review of all Clinical Reports.
Curr Mol Med
; 22(5): 385-400, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34365947
8.
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
J Cardiovasc Thorac Res
; 13(4): 336-354, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047139
9.
Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
Mitochondrion
; 46: 321-325, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30205178