Search details
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38527963
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33861953
3.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Article
in English
| MEDLINE | ID: mdl-35759269
4.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35670379
5.
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Arch Gynecol Obstet
; 300(3): 777-782, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31317253
6.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Brain
; 144(10): e85, 2021 11 29.
Article
in English
| MEDLINE | ID: mdl-34373908
7.
Brown-Vialetto-Van Laere syndrome.
Iran J Child Neurol
; 18(2): 141-146, 2024.
Article
in English
| MEDLINE | ID: mdl-38617395
8.
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Eur J Hum Genet
; 32(1): 52-60, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37880421
9.
Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Rep Biochem Mol Biol
; 12(3): 386-392, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-38618260
10.
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy.
Adv Biomed Res
; 12: 150, 2023.
Article
in English
| MEDLINE | ID: mdl-37564451
11.
Chloride Channel Mutations Leading to Congenital Myotonia.
Cureus
; 14(12): e32649, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36540316
12.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Ann Clin Transl Neurol
; 9(9): 1345-1358, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35880319
13.
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Iran J Child Neurol
; 13(2): 155-162, 2019.
Article
in English
| MEDLINE | ID: mdl-31037088
14.
Common KRAS and NRAS gene mutations in sporadic colorectal cancer in Northeastern Iranian patients.
Curr Probl Cancer
; 42(6): 572-581, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29921458
15.
The Efficacy of Glasgow Coma Scale (GCS) Score and Acute Physiology and Chronic Health Evaluation (APACHE) II for Predicting Hospital Mortality of ICU Patients with Acute Traumatic Brain Injury.
Bull Emerg Trauma
; 6(2): 141-145, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29719845
16.
Chromogenic in situ Hybridization Compared with Real time Quantitative Polymerase Chain Reaction to Evaluate HER2/neu Status in Breast Cancer.
Iran J Pathol
; 12(2): 128-134, 2017.
Article
in English
| MEDLINE | ID: mdl-29515634
17.
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Public Health Genomics
; 20(3): 188-193, 2017.
Article
in English
| MEDLINE | ID: mdl-28719906
18.
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
Int J Dermatol
; 57(10): 1242-1245, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29479672
19.
Evaluation of methylation of MGMT (O6-methylguanine-DNA methyltransferase) gene promoter in sporadic colorectal cancer.
DNA Cell Biol
; 32(7): 371-7, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23705976
20.
Expression of IL-17 and COX2 gene in peripheral blood leukocytes of vitiligo patients.
Iran J Allergy Asthma Immunol
; 10(2): 81-9, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21625016