Detalhe da pesquisa
1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
2.
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Mol Genet Genomics
; 297(5): 1289-1300, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754085
3.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512
4.
Anti-pathogenic activity of graphene nanomaterials: A review.
Colloids Surf B Biointerfaces
; 199: 111509, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340933
5.
Antiviral performance of graphene-based materials with emphasis on COVID-19: A review.
Med Drug Discov
; 11: 100099, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056572
6.
Association of HLA-DR2-Related Haplotype (HLA-DRB5*01-DRB1*1501-DQB1*0602) in Patients with Multiple Sclerosis in Khuzestan Province.
Iran J Child Neurol
; 15(3): 35-46, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282361
7.
Characterization of a novel pathogenic variation c.1237T>G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy.
Intractable Rare Dis Res
; 9(1): 48-53, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201676
8.
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.
Basic Clin Neurosci
; 11(4): 549-556, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613893
9.
Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing.
Int J Prev Med
; 11: 117, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33088445
10.
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Sci Rep
; 9(1): 9038, 2019 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227780
11.
Association of human leukocyte antigen-DRB haplotype in multiple sclerosis population of Khuzestan, Iran.
Iran J Neurol
; 17(4): 154-160, 2018 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31210899
12.
Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.
Kidney360
; 2(5): 873-877, 2021 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373060