Detalhe da pesquisa
1.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
2.
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
3.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet
; 95(1): 151-159, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315573
4.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
5.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Int J Mol Sci
; 18(3)2017 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28294978
6.
Adverse events following immunisation with the first dose of sputnik V among Iranian health care providers.
Clin Exp Vaccine Res
; 12(1): 25-31, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36844688
7.
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
J Med Genet
; 44(4): 233-40, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17098888
8.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet
; 50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013181
9.
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Int J Pediatr Otorhinolaryngol
; 79(2): 136-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25555641
10.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nat Genet
; 47(5): 528-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848753
11.
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.
Arch Iran Med
; 17(7): 471-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24979557
12.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
; 343(6170): 506-511, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482476
13.
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
Int J Pediatr Otorhinolaryngol
; 76(8): 1164-74, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22695344
14.
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
Arch Iran Med
; 14(3): 188-91, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21529108
15.
Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.
Arch Med Sci
; 7(2): 321-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291774
16.
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
BMJ Case Rep
; 20092009.
Artigo
em Inglês
| MEDLINE | ID: mdl-21686705