Detalhe da pesquisa
1.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
2.
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Am J Hum Genet
; 107(2): 342-351, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32673564
3.
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Clin Exp Immunol
; 209(1): 83-89, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511492
4.
Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls.
Scand J Immunol
; 95(3): e13130, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951041
5.
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Connect Tissue Res
; 60(2): 146-154, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29732924
6.
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Hum Mutat
; 39(10): 1344-1348, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30058754
7.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet
; 94(5): 734-44, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726473
8.
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
BMC Med Genet
; 18(1): 114, 2017 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29037160
9.
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.
Pediatr Cardiol
; 34(8): 2063-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23400408
10.
From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy.
Appl Immunohistochem Mol Morphol
; 31(10): 690-696, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796154
11.
Nanobubble Ozone Stored in Hyaluronic Acid Decorated Liposomes: Antibacterial, Anti-SARS-CoV-2 Effect and Biocompatibility Tests.
Int J Nanomedicine
; 17: 351-379, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115773
12.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Breast
; 65: 15-22, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753294
13.
The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus.
Glob Med Genet
; 8(2): 69-71, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33987626
14.
A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Genes (Basel)
; 12(6)2021 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34205586
15.
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.
Appl Immunohistochem Mol Morphol
; 29(7): 546-550, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595934
16.
Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population.
Acta Dermatovenerol Croat
; 29(3): 121-126, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34990340
17.
Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population.
Curr Drug Metab
; 21(6): 466-470, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562520
18.
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
Eur J Hum Genet
; 27(12): 1763-1773, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235869
19.
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
J Pediatr Endocrinol Metab
; 26(1-2): 191, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23457319
20.
Preclinical safety evaluation of intravitreal injection of full-length humanized vascular endothelial growth factor antibody in rabbit eyes.
Invest Ophthalmol Vis Sci
; 48(4): 1773-81, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17389511