Detalhe da pesquisa
1.
Association study between polymorphisms in MIA3, SELE, SMAD3 and CETP genes and coronary artery disease in an Iranian population.
BMC Cardiovasc Disord
; 22(1): 298, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768776
2.
CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.
BMC Pediatr
; 22(1): 125, 2022 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277149
3.
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
BMC Pediatr
; 21(1): 70, 2021 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557787
4.
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.
Cell Mol Biol Lett
; 24: 54, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31452656
5.
Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report.
Iran J Med Sci
; 44(3): 262-264, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182894
6.
A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
Ir J Med Sci
; 192(5): 2279-2282, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520350
7.
Cystinosis and two rare mutations in CTNS gene: two case reports.
J Med Case Rep
; 16(1): 181, 2022 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35513889
8.
Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.
Clin Case Rep
; 10(3): e05532, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35280100
9.
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.
BMC Med Genomics
; 15(1): 133, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710363
10.
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Ir J Med Sci
; 191(4): 1877-1890, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34374940
11.
A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.
Clin Case Rep
; 9(9): e04749, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34512980
12.
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
BMC Med Genomics
; 14(1): 230, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544414
13.
Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.
Clin Case Rep
; 8(12): 2976-2985, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33363863
14.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Mol Genet Genomic Med
; 8(12): e1550, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205915
15.
Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan.
Arch Med Res
; 39(1): 131-3, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18068007
16.
Investigating the Association Between miR-608 rs4919510 and miR-149 rs2292832 with Colorectal Cancer in Iranian Population.
Microrna
; 7(2): 100-106, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29412127
17.
Sequence analysis of mitochondrial DNA hypervariable regions: an approach to personal identification.
Arch Med Res
; 38(3): 345-9, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17350487
18.
Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran.
Hematology
; 2015 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25984924
19.
Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.
Cell J
; 16(1): 91-4, 2014 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518978
20.
Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.
Int J Mol Cell Med
; 1(3): 173-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-24551774