Detalhe da pesquisa
1.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
2.
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
J Hum Genet
; 63(4): 487-491, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410513
3.
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Hum Genet
; 136(3): 287-296, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28054173
4.
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.
Cytogenet Genome Res
; 148(1): 1-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27055209
5.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
J Neurol Neurosurg Psychiatry
; 87(8): 802-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27147698
6.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Brain
; 138(Pt 9): 2493-504, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133662
7.
Effects of early versus delayed excision and grafting on the return of the burned hand function.
J Res Med Sci
; 21: 109, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28250786
8.
Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
J Res Med Sci
; 21: 95, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28163741
9.
Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.
Clin Oral Investig
; 19(4): 891-4, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25220223
10.
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.
J Res Med Sci
; 19(8): 792-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25422667
11.
The impact of educating parents of leukaemic children on the healthy siblings' quality of life.
J Pak Med Assoc
; 63(2): 249-52, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894905
12.
Evaluation of neural gene expression in serum treated embryonic stem cells in Alzheimer's patients.
J Res Med Sci
; 18(Suppl 1): S20-3, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23961278
13.
Causes and Risk Factors of Drug-Resistant Epilepsy in Children.
Iran J Child Neurol
; 17(3): 89-97, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37637781
14.
On genotype-phenotype relationship of dystrophinopathies among Iranian population.
Curr J Neurol
; 22(4): 231-237, 2023 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425356
15.
Association of SOD2 rs2758339, rs5746136 and rs2842980 polymorphisms with increased risk of breast cancer: a haplotype-based case-control study.
Genes Genomics
; 45(9): 1165-1178, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253908
16.
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Mol Genet Genomic Med
; 11(2): e2101, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36374152
17.
A case report of 22q11 deletion syndrome confirmed by array-CGH method.
J Res Med Sci
; 17(3): 310-2, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23267387
18.
Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.
Iran J Child Neurol
; 16(3): 193-198, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204426
19.
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.
Brain Commun
; 1(1): fcz011, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954258
20.
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
Iran J Child Neurol
; 13(3): 25-34, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327966