Detalhe da pesquisa
1.
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics
; 24(4): 279-289, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597066
2.
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.
BMC Neurol
; 20(1): 291, 2020 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32746785
3.
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Neurogenetics
; 24(4): 317-318, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37668767
4.
Genetic polymorphisms in calcitonin receptor gene and risk for recurrent kidney calcium stone disease.
Urol Int
; 92(3): 356-62, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24296906
5.
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Orphanet J Rare Dis
; 18(1): 177, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403138
6.
Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
Ir J Med Sci
; 191(6): 2733-2741, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031939
7.
A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report.
Iran J Public Health
; 49(5): 995-1000, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32953689
8.
The effect of TGF-beta2 on MMP-2 production and activity in highly metastatic human bladder carcinoma cell line 5637.
Cancer Invest
; 27(5): 568-74, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19219652
9.
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Orphanet J Rare Dis
; 18(1): 190, 2023 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37461050
10.
Association of Htra1 gene polymorphisms with the risk of developing AMD in Iranian population.
Rep Biochem Mol Biol
; 4(1): 43-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989749
11.
Complement Factor H Y402H and LOC387715 A69S Polymorphisms in Association with Age-Related Macular Degeneration in Iran.
J Ophthalmic Vis Res
; 9(2): 181-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25279119