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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
; : 101125, 2024 Mar 21.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33987626
14.
A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Genes (Basel)
; 12(6)2021 06 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34205586
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34990340
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33595934
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-17389511