Posted on 13/12/2024 by sciencefather Dr. Metin Eser-Medical Genetics-Best Researcher Award Dr. Metin Eser at mraniye Education and Research Hospital, University of Health Sciences, Istanbul, Turke Author Profile Orcid 🎓Educational Background Medical Genetics Specialist: Pamukkale University Faculty of Medicine (2009–2013) Medical Degree: Ondokuz Mayıs University Faculty of Medicine (1987–1996) High School: Malatya High School, Malatya (1983–1986) Secondary & Primary Education: Yakınca Secondary and Primary Schools, Malatya (1976–1983) 🧠Professional Experience Medical Genetics Specialist: Istanbul Health Sciences University, Ümraniye Training and Research Hospital (2019–Present) Aydın State Hospital (2016–2019) Medeniyet University, Göztepe Training and Research Hospital (2013–2016) Research Assistant: Pamukkale University Faculty of Medicine, Department of Medical Genetics (2009–2013) Ankara Numune Training and Research Hospital, Emergency Medicine (2007–2009) Gaziantep University Faculty of Medicine, Pathology (2005–2007) General Practitioner and Institutional Roles: Multiple roles in healthcare centers and hospitals across Turkey, including TCDD Ankara Hospital and Şahnahan Health Center. 🏆Specialization Thesis Title: Investigation of CHGA Gene Promoter Region Polymorphisms in Cases with Essential Hypertension Advisor: Assoc. Prof. Dr. C. Nur Semerci (2012) 🌍Scientific Contributions Dr. Eser has co-authored numerous peer-reviewed publications in internationally recognized journals such as American Journal of Human Genetics, Balkan Medical Journal, Clinical Dysmorphology, and European Journal of Endocrinology. His work spans topics such as genetic mutations, chromosomal abnormalities, and rare syndromes like Cantu and Rubinstein-Taybi. 🌟Conference Presentations Dr. Eser has presented his findings at prestigious gatherings, including the European Human Genetics Conference (2017) in Copenhagen and several national medical genetics congresses in Turkey. Notable Publication Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort Authors : Tuerkyilmaz, Ayberk; Sager, Safiye Guenes; Tekin, Emine; Terali, Kerem; Duezkalir, Hanife; Eser, Metin; Akin, Yasemin Journal :Neurogenetics Year :2024 Homozygous Frameshift Mutation In Ceruloplasmin Gene That Causing Neurodegeneration, Dementia With Diabetes In A Turkish Man: A Case Report Authors : Canbek, Sezin; Eser, Metin; Yarar, Murat Hakki Journal : European Journal of Human Genetics Year :2024 Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2 Authors : Dursun, Fatma; Turan, Ihsan; Bitkin, Eda celebi; Bayramoglu, Elvan; Cayir, Atilla; Erdeve, Senay Savas; Cakir, Esra Deniz Papatya; Journal : Clinical Endocrinology Year :2024 Severe adrenal insufficiency in six neonates with normal newborn screening for CAH Authors :Ilknur Kurt; Metin Eser; Ahmet Kahveci; Ahmet Ucar; Derya Bulus; Bahar Ozcabi; Omer Guran; Selen Karagozlu; Aysenur Ersoy; Senol Demir et al. Journal : Clinical Endocrinology Year :2024 Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome Authors : Uzunhan, Tugce Aksu; Erturk, Biray; Aydin, Kuersad; Ayaz, Akif; Altunoglu, Umut; Yarar, Murat Hakki; Gezdirici, Alper; Icagasioglu, Dilara Fuesun; Journal : Clinical Neurology and Neurosurgery Year :2023 Dr. Metin Eser|Medical Genetics|Best Researcher Award