Detalhe da pesquisa
1.
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Clin Genet
; 97(6): 915-919, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112393
2.
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Am J Med Genet A
; 179(8): 1547-1555, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184804
3.
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Brain
; 140(11): 2851-2859, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053766
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.
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