Search details
1.
Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
Clin Genet
; 105(6): 611-619, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38308583
2.
Genetic etiology of hearing loss in Iran.
Hum Genet
; 141(3-4): 623-631, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35050400
3.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet
; 15(9): e1008385, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31550250
4.
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Clin Genet
; 99(1): 187-192, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32895917
5.
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.
Article
in English
| MEDLINE | ID: mdl-33713422
6.
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.
Article
in English
| MEDLINE | ID: mdl-32231217
7.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Article
in English
| MEDLINE | ID: mdl-29302074
8.
Iranome: A catalog of genomic variations in the Iranian population.
Hum Mutat
; 40(11): 1968-1984, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31343797
9.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet
; 95(1): 151-159, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30315573
10.
Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.
Kidney Blood Press Res
; 43(2): 471-478, 2018.
Article
in English
| MEDLINE | ID: mdl-29590654
11.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Article
in English
| MEDLINE | ID: mdl-21937992
12.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
J Med Genet
; 52(12): 823-9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26445815
13.
Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.
Med Princ Pract
; 24(4): 351-4, 2015.
Article
in English
| MEDLINE | ID: mdl-26021840
14.
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
J Hum Genet
; 59(7): 368-75, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24849935
15.
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Proc Natl Acad Sci U S A
; 108(30): 12390-5, 2011 Jul 26.
Article
in English
| MEDLINE | ID: mdl-21734151
16.
Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups.
Arch Iran Med
; 27(2): 79-88, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38619031
17.
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.
Mol Genet Genomic Med
; 11(5): e2168, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36934406
18.
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.
Arch Iran Med
; 26(3): 176-180, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-37543941
19.
Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations.
Arch Iran Med
; 26(2): 69-75, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-37543926
20.
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.
Article
in English
| MEDLINE | ID: mdl-37543885