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Gene|October 24, 2017
Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutationsAyça Aykut, Emin Karaca, Hüseyin Onay, et al.Diagnostic and Interventional Radiology (Ankara, Turkey)|October 19, 2017
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophyCanan Altay, Mustafa Seçil, Tevfik Demir, et al.International Journal of Laboratory Hematology|July 1, 2026
Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) AnalysisEnise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, et al.Orphanet Journal of Rare Diseases|October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndromeTahir Atik, Asuman Koparir, Guney Bademci, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 25, 2021
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrumMelis Kose, Esra Isik, Ayça Aykut, et al.Metabolism: Clinical and Experimental|July 4, 2015
Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalitiesBaris Akinci, Fatos Dilan Koseoglu, Huseyin Onay, et al.Journal of Medical Genetics|April 16, 2026
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathiesSanem Yilmaz, Enise Avci Durmusalioglu, Dilara Ece Toprak Dogan, et al.Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|August 1, 2025
Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patientsTahir Atik, Basak Durmus Ozen, Esra Isik, et al.Journal of Medical Genetics|March 19, 2026
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosisEsra Isik, Mohammad Faraz Zafeer, Guney Bademci, et al.Pediatric Neurology|June 21, 2024
The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing EraSeda Kanmaz, Sanem Yılmaz, Cemile Büşra Olculu, et al.Pageof 10