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BMC Pharmacology & Toxicology|June 5, 2026
Intravenous diazepam application in a departmental convulsive status epilepticus protocol with CYP2C19 polymorphisms: a pediatric prospective cohort studyMuazzez Seker Gezici, Caner Turan, Durdugul Ayyildiz Emecen, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 6, 2021
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosisEnise Avci Durmusalioglu, Esra Isik, Durdugul Ayyildiz Emecen, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
A New Unc45a 5'utr Variant In Patients With Aagenaes SyndromeTurkan Turkut Tan, Yusuf Can Dogan, Zehra Burcu Yilmaz, et al.
Neuropharmacology|December 27, 2014
Evidence for the existence of pyrimidinergic transmission in rat brainMehmet Cansev, Fulya Orhan, Esra O Yaylagul, et al.
Diabetes Research and Clinical Practice|October 14, 2023
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate geneDamla Goksen, Ferda Evin, Esra Isik, et al.
European Journal of Ophthalmology|May 8, 2025
Next generation sequencing in children with isolated congenital cataractGunay Amanova, Esra Er, Esra Isik, et al.
Case Reports in Immunology|December 21, 2017
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesSanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, et al.
American Journal of Medical Genetics. Part A|April 13, 2023
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature reviewGokcen Karamik, Beyhan Tuysuz, Esra Isik, et al.
Metabolic Brain Disease|June 22, 2026
Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from TürkiyeKemal Uylaş, Havva Yazıcı, Yasemin Atik Altınok, 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.
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