Detalhe da pesquisa
1.
Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions.
Cancer Cell Int
; 24(1): 26, 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200584
2.
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.
Neurol Sci
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421525
3.
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Biochem Genet
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38619706
4.
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Hum Genet
; 142(8): 1001-1016, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074398
5.
Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.
Neurol Sci
; 44(11): 4041-4048, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369877
6.
Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.
Neurol Sci
; 44(12): 4491-4498, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452996
7.
The role of excitatory amino acid transporter 2 (EAAT2) in epilepsy and other neurological disorders.
Metab Brain Dis
; 38(1): 1-16, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36173507
8.
Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.
Neurol Sci
; 43(4): 2859-2863, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35099645
9.
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Clin Genet
; 100(5): 637-640, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34370298
10.
A novel SRD5A2 mutation in an Iranian family with sex development disorder.
Andrologia
; 53(1): e13847, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099786
11.
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Ann Hum Genet
; 84(1): 102-106, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571209
12.
An immunocompetent patient with a nonsense mutation in NHEJ1 gene.
BMC Med Genet
; 20(1): 45, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898087
13.
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Mol Vis
; 24: 679-689, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30416334
14.
Report of a Case with Trisomy 9 Mosaicism.
Iran J Med Sci
; 41(3): 249-52, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217611
15.
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia.
Iran J Med Sci
; 41(5): 456-8, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582597
16.
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Heliyon
; 10(6): e27434, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38501011
17.
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
BMC Med Genomics
; 17(1): 20, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216990
18.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
BMC Med Genomics
; 17(1): 51, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347586
19.
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Neuromuscul Disord
; 33(7): 589-595, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393748
20.
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings.
Clin Case Rep
; 10(8): e6195, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35937029