Detalhe da pesquisa
1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
2.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
3.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764426
4.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hum Mol Genet
; 28(11): 1919-1929, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715372
5.
Circulating exosomal miRNAs in cardiovascular disease pathogenesis: New emerging hopes.
J Cell Physiol
; 234(12): 21796-21809, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273798
6.
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Arch Gynecol Obstet
; 300(3): 777-782, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317253
7.
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
BMC Med Genet
; 19(1): 196, 2018 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419932
8.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
9.
Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran.
J Res Med Sci
; 22: 99, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900455
10.
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.
Adv Biomed Res
; 12: 150, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37564451
11.
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Mol Genet Genomic Med
; 11(6): e2153, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794879
12.
Chloride Channel Mutations Leading to Congenital Myotonia.
Cureus
; 14(12): e32649, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36540316
13.
The association between a Fatty Acid Binding Protein 1 (FABP1) gene polymorphism and serum lipid abnormalities in the MASHAD cohort study.
Prostaglandins Leukot Essent Fatty Acids
; 172: 102324, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418801
14.
A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia
Iran Biomed J
; 25(5): 374-9, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425670
15.
Association of macro-and micro-nutrients dietary intakes with rs2241883 genetic variants of FABP 1 gene in MASHAD study population.
Clin Nutr ESPEN
; 45: 262-266, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620327
16.
Personalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.
Ann Med
; 52(8): 462-470, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32735150
17.
The effect of nanomicelle curcumin, sorafenib, and combination of the two on the cyclin D1 gene expression of the hepatocellular carcinoma cell line (HUH7).
Iran J Basic Med Sci
; 22(10): 1198-1202, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31998463
18.
Curcumin in tissue engineering: A traditional remedy for modern medicine.
Biofactors
; 45(2): 135-151, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30537039
19.
Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.
BMC Med Genomics
; 12(1): 83, 2019 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31174542
20.
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Iran J Child Neurol
; 13(2): 155-162, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037088