Detalhe da pesquisa
1.
Impact of COVID-19 and vaccination on first and second trimester screening results.
Cytokine
; 168: 156228, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224577
2.
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
Cerebellum
; 22(4): 640-650, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731353
3.
Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program.
J Clin Lab Anal
; 36(7): e24471, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35500172
4.
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Int J Neurosci
; 131(9): 875-878, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32345087
5.
Personalized evolutionary hypothesis in genomics and auxiliary lymph node through diverse subtelomeric signal profile.
Cell Biol Int
; 2015 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25644206
6.
A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.
Ann Otol Rhinol Laryngol
; 132(11): 1493-1495, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009772
7.
A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients.
Sci Rep
; 13(1): 3202, 2023 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36828874
8.
Extreme ßHCG levels in first trimester screening are risk factors for adverse maternal and fetal outcomes.
Sci Rep
; 13(1): 1228, 2023 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681713
9.
Niemann-Pick type A disease with new mutation: a case report.
J Med Case Rep
; 16(1): 288, 2022 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883096
10.
A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review.
AACE Clin Case Rep
; 7(3): 216-219, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095492
11.
The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation.
Basic Clin Neurosci
; 12(4): 563-568, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35154596
12.
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
J Pediatr Genet
; 10(4): 284-291, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849273
13.
Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women.
Sci Rep
; 11(1): 19402, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34593920
14.
Non-invasive prenatal test to screen common trisomies in twin pregnancies.
Mol Cytogenet
; 13: 5, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042312
15.
Fine-tuning of routine combined first- trimester screening: The ratio of serum-free- beta-human chorionic gonadotropin (fß-hCG) to pregnancy-associated plasma protein-A (PAPP-A) could improve performance of Down syndrome screening program, a retrospective cohort study in Iran.
Hum Antibodies
; 28(3): 203-210, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176639
16.
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome.
J Pediatr Endocrinol Metab
; 29(5): 607-9, 2016 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26943604
17.
Evaluation of in vitro spermatogenesis system effectiveness to study genes behavior: monitoring the expression of the testis specific 10 (Tsga10) gene as a model.
Arch Iran Med
; 17(10): 692-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305769
18.
Expression analysis of MiR-21, MiR-205, and MiR-342 in breast cancer in Iran.
Asian Pac J Cancer Prev
; 13(3): 873-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22631664
19.
Expression of Testis Specific Genes TSGA10, TEX101 and ODF3 in Breast Cancer.
Iran Red Crescent Med J
; 14(11): 722-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23396665
20.
Dizygotic Twins Concordant for Down Syndrome: Implication for Establishing a National Birth Defect Registry in Iran.
Iran J Public Health
; 45(12): 1667-1668, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053938