Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
3.
Mutations in TAF8 cause a neurodegenerative disorder.
Brain
; 145(9): 3022-3034, 2022 09 14.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
5.
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Arch Gynecol Obstet
; 300(3): 777-782, 2019 09.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373908
7.
Brown-Vialetto-Van Laere syndrome.
Iran J Child Neurol
; 18(2): 141-146, 2024.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37564451
11.
Chloride Channel Mutations Leading to Congenital Myotonia.
Cureus
; 14(12): e32649, 2022 Dec.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880319
13.
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Iran J Child Neurol
; 13(2): 155-162, 2019.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21625016