Detalhe da pesquisa
1.
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Br J Haematol
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38811201
2.
A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye.
Med Sci Monit
; 30: e944364, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38807347
3.
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
4.
Integration of Liquid Biopsies into Clinical Laboratory Applications via NGS in Cancer Diagnostics.
Clin Lab
; 66(5)2020 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32390404
5.
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Breast J
; 25(5): 1029-1033, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31228304
6.
Clinical Validation of a Novel GeneReader Next Generation Sequencing System for Tumor Specific Mutations and Bioinformatics Variant Analysis.
Clin Lab
; 66(11)2020 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180426
7.
A Rare Pathological Phenotype of Endometrioid Serous and Clear-Cell Ovarian Cancer with PIK3CA Mutations in Relation to The Excellent Response of Alpelisib.
Genes (Basel)
; 14(8)2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628682
8.
Pre-operative Neo-adjuvant Chemotherapy Related miRNAs as Key Regulators and Therapeutic Targets in Colorectal Cancer.
Curr Aging Sci
; 2023 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723961
9.
Site specific genetic differences in colorectal cancer via Next-Generation-Sequencing using a multigene panel.
Ann Ital Chir
; 94: 605-611, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131395
10.
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Eur J Breast Health
; 19(3): 235-252, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37415649
11.
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
12.
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Sci Rep
; 11(1): 8308, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33859323
13.
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Genes (Basel)
; 12(2)2021 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33572515
14.
Treatment, classification, and review of Tapia syndrome.
J Craniofac Surg
; 21(1): 278-80, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20098201
15.
Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia.
Clin Case Rep
; 8(9): 1719-1721, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32983484
16.
A successful treatment of avian influenza infection in Turkey.
J Trop Pediatr
; 55(4): 268-71, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19008273
17.
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Biomed Res Int
; 2018: 9647253, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888287
18.
Short-lasting pediatric laparoscopic surgery: Are muscle relaxants necessary? Endotracheal intubation vs. laryngeal mask airway.
J Pediatr Surg
; 52(11): 1705-1710, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249684
19.
Preoperative Anxiety before Spinal Anesthesia: Does Internet-based Visual Information/Multimedia Research Decrease Anxiety and Information Desire? A Prospective Multicentered Study.
Anesth Essays Res
; 11(2): 390-396, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663628
20.
Percutaneous internal ring suturing is a safe and effective method for the minimal invasive treatment of pediatric inguinal hernia: Experience with 250 cases.
J Pediatr Surg
; 51(8): 1330-5, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26777889