Detalhe da pesquisa
1.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
2.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cerebellum
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622473
3.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
J Med Virol
; 95(2): e28457, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597901
4.
TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.
Reprod Biomed Online
; 47(5): 103257, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37672871
5.
Clock 3111 T/C and Period3 VNTR gene polymorphisms and proteins, and melatonin levels in women with infertility.
J Assist Reprod Genet
; 40(5): 1109-1116, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847953
6.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics
; 22(3): 291-315, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098403
7.
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.
J Med Virol
; 94(11): 5225-5243, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811452
8.
Assessment of vaginal and endometrial microbiota by real-time PCR in women with unexplained infertility.
J Obstet Gynaecol Res
; 48(1): 129-139, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657369
9.
Derangements of vaginal and cervical canal microbiota determined with real-time PCR in women with recurrent miscarriages.
J Obstet Gynaecol
; 42(6): 2105-2114, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35166152
10.
MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort.
J Clin Lab Anal
; 32(2)2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28543752
11.
Association between colchicine resistance and vitamin D in familial Mediterranean fever.
Ren Fail
; 37(7): 1122-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26067744
12.
Effect of vitamin D receptor gene BsmI polymorphism on hospitalization of SARS-CoV-2 positive patients.
Nucleosides Nucleotides Nucleic Acids
; 43(3): 264-275, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647163
13.
Evaluating interleukin-6 levels and the rs1800795 variant in Turkish patients with COVID-19: a prospective cohort study.
Nucleosides Nucleotides Nucleic Acids
; 43(4): 377-390, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787093
14.
Association of MIF-173G/C, IL-4 VNTR, and IL-1RA VNTR variants with FMF-related amyloidosis in a Turkish cohort.
J Investig Med
; 72(1): 17-25, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37803493
15.
Vascular endothelial growth factor gene insertion/deletion polymorphism is associated with Vitamin D level in Turkish patients with coronavirus disease 2019.
Rev Assoc Med Bras (1992)
; 69(7): e20221713, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466590
16.
The effect of a 18 bp deletion/insertion variant of VEGF gene on the FMF development.
Nucleosides Nucleotides Nucleic Acids
; 42(4): 296-307, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36215175
17.
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.
Eur J Med Genet
; 66(6): 104751, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948290
18.
Oocyte maturation abnormalities - A systematic review of the evidence and mechanisms in a rare but difficult to manage fertility pheneomina.
Turk J Obstet Gynecol
; 19(1): 60-80, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35343221
19.
Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations.
Endocr Metab Immune Disord Drug Targets
; 21(2): 324-337, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640971
20.
Angiotensin-converting enzyme-1 gene insertion/deletion polymorphism may be associated with COVID-19 clinical severity: a prospective cohort study.
Ann Saudi Med
; 41(3): 141-146, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085542