Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-32231217
2.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet
; 95(1): 151-159, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30315573
3.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ Genom Med
; 9(1): 12, 2024 Feb 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38374194
4.
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
Am J Hum Genet
; 82(5): 1158-64, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18452889
5.
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Eur J Med Genet
; 62(10): 103724, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31315069
6.
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Iran J Public Health
; 48(10): 1910-1915, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31850270
7.
Molecular genetic study of Calpainopathy in Iran.
Gene
; 677: 259-265, 2018 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-30056071
8.
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.
Kidney Int Rep
; 3(6): 1454-1463, 2018 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-30450471
9.
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Int J Pediatr Otorhinolaryngol
; 79(2): 136-8, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25555641
10.
The assessment of affected factors on cytomegalovirus and rubella virus prevalence in females in Hamadan, Iran.
Acta Med Iran
; 52(4): 303-9, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24901862
11.
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
Int J Pediatr Otorhinolaryngol
; 76(8): 1164-74, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22695344