Ara
Toplam kayıt 8, listelenen: 1-8
Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
(Dr. Behcet Uz Pediatric Hospital, 2020)
Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: ...
Importance of diagnosis in breast cancer with Non-BRCA pathogenic germline variants of cancer susceptibility genes using high-throughput sequencing analysis
(Kare Publishing, 2022)
Objectives: The aim was to point out the importance of the diagnosis rate of breast cancer (BC) by analyzing the cancer predisposition genes except BRCA1/2 with multigene testing. Methods: In this study, 232 non-BRCA cases ...
Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
(AVES, 2022)
Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis ...
How to manage low estriol levels in pregnancies, one center experience
(Galenos Publishing House, 2022)
Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ...
COVID-19 pozitif hastalarda SARS-CoV-2 varyantlarının prevalansı
(DOC Design and Informatics Co. Ltd., 2022)
Amaç: Dünya Sağlık Örgütü (DSÖ) tarafından alfa (B.1.1.7), beta (B.1.351), gamma (P.1), delta (B.1.617.2) ve omic - ron (B.1.1.529) endişe verici varyantlar (“variants of concern – VOCs”) olarak sınıflandırılmıştır. ...
Genetic and clinical profiling of mendelian susceptibility to mycobacterial disease patients; singlecenter experience
(Istanbul University, 2022)
Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The ...
Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: Experience of two centers
(Galenos Publishing House, 2022)
Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some ...
Preoperative screening for COVID-19: Results from a clinical diagnostic laboratory
(Istanbul University, 2022)
Objective: The study aimed to determine what proportion of Turkiye’s preoperative patient population has tested positive for COVID-19 and to ascertain whether the increasing or decreasing trend in the numbers of positive ...