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1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Article
in English
| MEDLINE | ID: mdl-37713627
2.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Article
in English
| MEDLINE | ID: mdl-26206890
3.
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Eur J Hum Genet
; 2024 Jan 26.
Article
in English
| MEDLINE | ID: mdl-38278869
4.
Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
J Clin Res Pediatr Endocrinol
; 15(3): 318-323, 2023 08 23.
Article
in English
| MEDLINE | ID: mdl-34965700
5.
Adolescent metabolic syndrome and its components associations with incidence of type 2 diabetes in early adulthood: Tehran lipid and glucose study.
Diabetol Metab Syndr
; 13(1): 1, 2021 Jan 02.
Article
in English
| MEDLINE | ID: mdl-33388084
6.
Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran.
Curr Res Transl Med
; 67(2): 72-75, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30723056
7.
DNA hypermethylation within TERT promoter upregulates TERT expression in cancer.
J Clin Invest
; 129(1): 223-229, 2019 01 02.
Article
in English
| MEDLINE | ID: mdl-30358567
8.
A cancer specific hypermethylation signature of the TERT promoter predicts biochemical relapse in prostate cancer: a retrospective cohort study.
Oncotarget
; 7(36): 57726-57736, 2016 09 06.
Article
in English
| MEDLINE | ID: mdl-27437772
9.
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Nat Genet
; 47(3): 257-62, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25642631
10.
Association between upstream purine complexes of human caveolin-1 gene and schizophrenia in qazvin province of iran.
Iran Red Crescent Med J
; 16(12): e21484, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25763243
11.
DNA hypermethylation within TERT promoter upregulates TERT expression in cancer.
J Clin Invest
; 129(4): 1801, 2019 04 01.
Article
in English
| MEDLINE | ID: mdl-30932912
12.
Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson's disease.
J Mol Neurosci
; 51(2): 389-93, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23640536
13.
CTLA-4 gene polymorphisms (-318C/T, +49A/G, +6230A/G) in Iranian patients with multiple sclerosis.
Iran J Allergy Asthma Immunol
; 9(4): 219-23, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-21131701
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