Detalhe da pesquisa
1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
2.
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
Mol Genet Genomics
; 298(4): 905-917, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131081
3.
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Hereditas
; 160(1): 25, 2023 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248539
4.
Development of a Quantitative Multiplex PCR to Detect Three Common Alpha Thalassemia Deletions.
Hemoglobin
; 47(4): 163-166, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37766586
5.
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran.
Hemoglobin
; 45(1): 37-40, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33775199
6.
Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis.
Dermatol Online J
; 25(3)2019 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982314
7.
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Med J Islam Repub Iran
; 33: 126, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32280632
8.
The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.
Cell Mol Biol (Noisy-le-grand)
; 64(9): 1718, 2018 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030956
9.
FLT3 Gene Mutation Profile and Prognosis in Adult Acute Myeloid Leukemia.
Clin Lab
; 62(10): 2011-2017, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164537
10.
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
Eur Arch Otorhinolaryngol
; 272(9): 2255-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25012701
11.
Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.
Int J Audiol
; 53(2): 128-31, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24224790
12.
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Iran Biomed J
; 27(5): 307-19, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873728
13.
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Arch Iran Med
; 24(12): 887-896, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35014236
14.
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Iran Biomed J
; 24(3): 201-5, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31952437
15.
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.
Acta Otolaryngol
; 135(2): 125-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25423259
16.
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect.
Int J Pediatr Otorhinolaryngol
; 77(5): 821-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23523375
17.
Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran.
Iran J Reprod Med
; 10(2): 141-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25242988