Detalhe da pesquisa
1.
DOK7 congenital myasthenic syndrome: case series and review of literature.
BMC Neurol
; 24(1): 211, 2024 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38907197
2.
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Clin Genet
; 99(1): 187-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895917
3.
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Clin Genet
; 95(6): 718-725, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30950035
4.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ Genom Med
; 9(1): 12, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374194
5.
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Arch Iran Med
; 25(12): 788-797, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543906
6.
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Arch Iran Med
; 24(5): 364-373, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196201
7.
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Iran J Public Health
; 48(10): 1910-1915, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31850270
8.
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Arch Iran Med
; 20(9): 617-620, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048924
9.
Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
Arch Iran Med
; 19(4): 236-40, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041517
10.
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
Neuromuscul Disord
; 26(4-5): 277-82, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27020652
11.
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.
Arch Iran Med
; 18(1): 60-4, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556389
12.
Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
J Invest Dermatol
; 136(6): 1283-1286, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968259