Detalhe da pesquisa
1.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet
; 15(9): e1008385, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550250
2.
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Clin Genet
; 100(1): 59-78, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713422
3.
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
J Hum Genet
; 65(7): 609-617, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231217
4.
Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
Blood Cells Mol Dis
; 71: 39-44, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499877
5.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
J Med Genet
; 52(12): 823-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26445815
6.
PDZD7 and hearing loss: More than just a modifier.
Am J Med Genet A
; 167A(12): 2957-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416264
7.
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Arch Iran Med
; 25(9): 600-608, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543885
8.
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Sci Rep
; 11(1): 6952, 2021 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772059
9.
Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.
Arch Iran Med
; 23(12): 842-847, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33356342