Detalhe da pesquisa
1.
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
2.
CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene.
J Gene Med
; 22(11): e3258, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761967
3.
Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.
Iran J Med Sci
; 45(2): 118-124, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32210488
4.
An immunocompetent patient with a nonsense mutation in NHEJ1 gene.
BMC Med Genet
; 20(1): 45, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898087
5.
Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome.
Iran J Med Sci
; 44(3): 214-219, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182887
6.
The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report.
Iran J Med Sci
; 44(1): 65-69, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666078
7.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol
; 31(7): 1116-1130, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463882
8.
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Mol Vis
; 24: 679-689, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30416334
9.
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
BMC Med Genet
; 18(1): 87, 2017 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28821231
10.
Linkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease.
Clin Lab
; 62(8): 1541-1546, 2016 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164604
11.
Second Allele Finder Software: a Simple Approach Toward HLA Typing.
Clin Lab
; 62(10): 2045-2051, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164527
12.
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia.
Iran J Med Sci
; 41(5): 456-8, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582597
13.
MSX1 mutation in witkop syndrome; a case report.
Iran J Med Sci
; 38(2 Suppl): 191-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24031111
14.
Expression of a2, a5 and a6 subunits of integrin in de-differentiated NIH3T3 cells by cell-free extract of embryonic stem cells.
Mol Biol Rep
; 39(7): 7339-46, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22314916
15.
Two Novel Mutations in LAMC2 Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa.
Rep Biochem Mol Biol
; 10(4): 597-601, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35291611
16.
The Effect of Short-term Mediterranean-DASH Intervention for Neurodegenerative Delay (MIND) Diet on Hunger Hormones, Anthropometric Parameters, and Brain Structures in Middle-aged Overweight and Obese Women: A Randomized Controlled Trial.
Iran J Med Sci
; 47(5): 422-432, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117580
17.
Inferior Spear-like Lens Opacity as a Sign of Keratoconus.
J Ophthalmic Vis Res
; 17(1): 12-18, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35194491
18.
High dietary inflammatory index (DII) scores increase odds of overweight in adults with rs9939609 polymorphism of FTO gene.
Clin Nutr ESPEN
; 42: 221-226, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745583
19.
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
Am J Pathol
; 174(1): 216-27, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19095965
20.
The association between FTO rs9939609 gene polymorphism and anthropometric indices in adults.
J Physiol Anthropol
; 39(1): 14, 2020 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398148