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International Ophthalmology|December 21, 2017
Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndromeIrmak Karaca, Suzan Guven Yilmaz, Melis Palamar, et al.
Journal of Clinical Lipidology|January 7, 2026
Application of the North American Familial Chylomicronemia Syndrome Score (NAFCS Score) in monogenic hypertriglyceridemia patients: A single-center Turkish cohort studyIlgin Yıldırım Sımsır, Oben Belen, Pinar Cıftcı, et al.
BMC Medical Genomics|October 1, 2024
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical applicationTahir Atik, Enise Avci Durmusalioglu, Esra Isik, et al.
Scandinavian Journal of Immunology|December 4, 2018
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriagesNecil Kutukculer, Ayca Aykut, Neslihan E Karaca, et al.
Case Reports in Immunology|May 5, 2023
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on AdmissionGulcin Aytac, Burcu Guven, Ilyas Aydin, et al.
Clinical Case Reports|May 3, 2021
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and differenceNecil Kutukculer, Ezgi Topyildiz, Afig Berdeli, et al.
Hepatology Forum|April 21, 2025
A rare case of Yersinia pseudotuberculosis liver abscess and bacteremia in a heterozygous carrier of HFE1 H63D and MPEG1 mutations in TurkiyeMuhammed Alper Ozarslan, Hasan Selcuk Ozkan, Mert Pekerbas, et al.
Annals of Human Genetics|March 13, 2020
Clinical and molecular aspects of PTEN mutations in 10 pediatric patientsEsra Isik, Ozguc Semih Simsir, Asli Ece Solmaz, et al.
Journal of Clinical Immunology|October 15, 2024
Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and PrognosisFatih Celmeli, Ayse Oz, Hasan Serdar Kihtir, et al.
Diabetes & Metabolic Syndrome|April 12, 2017
The spectrum of HNF1A gene mutations in patients with MODY 3 phenotype and identification of three novel germline mutations in Turkish PopulationEmin Karaca, Huseyin Onay, Sevki Cetinkalp, et al.
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