Detalhe da pesquisa
1.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
2.
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Clin Genet
; 99(6): 823-828, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33583041
3.
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.
Iran J Med Sci
; 43(2): 218-222, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749992
4.
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
Indian J Hum Genet
; 19(1): 84-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23901198
5.
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Indian Pediatr
; 60(3): 193-196, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604934
6.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Diagnostics (Basel)
; 13(17)2023 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685353
7.
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Front Neurol
; 12: 739931, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621239
8.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
; 29(2): 271-279, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901138
9.
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Mol Syndromol
; 11(2): 62-72, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655337
10.
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Cell J
; 21(3): 337-349, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31210441
11.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Eur J Hum Genet
; 24(10): 1445-52, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956250
12.
Yunis-Varón syndrome: the first report of two Iranian cases.
Acta Med Iran
; 52(1): 85-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658994
13.
Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family.
Acta Med Iran
; 51(12): 907-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24442548
14.
Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.
Iran Red Crescent Med J
; 15(10): e8221, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24693374
15.
BAX pro-apoptotic gene alterations in repeated pregnancy loss.
Arch Med Sci
; 7(1): 117-22, 2011 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291743
16.
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Eur J Hum Genet
; 24(10): 1516, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27628567