Detalhe da pesquisa
1.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761294
2.
Distinct genetic variation and heterogeneity of the Iranian population.
PLoS Genet
; 15(9): e1008385, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550250
3.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
4.
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
BMC Med Genet
; 21(1): 22, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32013889
5.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29302074
6.
Diagnostic accuracy of sFlt1/PlGF ratio as a marker for preeclampsia.
BMC Pregnancy Childbirth
; 20(1): 80, 2020 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033594
7.
Iranome: A catalog of genomic variations in the Iranian population.
Hum Mutat
; 40(11): 1968-1984, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343797
8.
Effect of inbreeding on intellectual disability revisited by trio sequencing.
Clin Genet
; 95(1): 151-159, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315573
9.
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ Genom Med
; 9(1): 12, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374194
10.
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
Int J Reprod Biomed
; 21(8): 667-672, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37885978
11.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Hum Genet
; 129(2): 141-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21063731
12.
A Pediatric Parathyroid Carcinoma: An Unusual Clinical Presentation and Mini-review.
Int J Endocrinol Metab
; 19(1): e110234, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33815520
13.
Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.
Hemoglobin
; 32(6): 539-45, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19065331
14.
Increased expression level of Dicer in placenta is associated with the early onset of preeclampsia.
Int J Reprod Biomed
; 21(12): 1031-1034, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370491
15.
Accuracy of Soluble Endoglin for Diagnosis of Preeclampsia and its Severity
Iran Biomed J
; 21(5): 312-30, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558439
16.
Expression of placental growth factor mRNA in preeclampsia.
Int J Reprod Biomed
; 15(3): 169-174, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28580450
17.
Predictive value of miR-210 as a novel biomarker for pre-eclampsia: a systematic review protocol.
BMJ Open
; 6(9): e011920, 2016 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683514
18.
The imbalance in expression of angiogenic and anti-angiogenic factors as candidate predictive biomarker in preeclampsia.
Iran J Reprod Med
; 13(5): 251-62, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26221124
19.
Effect of predictive value of progesterone level on the day of HCG injection for IVF success in women with infertility due to tubal factor or polycystic ovarian syndrome referred to the women hospital, Tehran, 2009.
Iran J Reprod Med
; 10(4): 349-54, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25246897