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European Journal of Pediatrics|December 10, 2024
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomesMerve Yoldas Celik, Ebru Canda, Havva Yazici, et al.JMM Case Reports|November 28, 2018
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndromeSanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|March 12, 2025
Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implicationsMuhittin Ozcan, Seda Kanmaz, Erdem Simsek, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 5, 2023
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic formHavva Yazıcı, Gunes Ak, Merve Yoldas Çelik, et al.Neuropediatrics|December 26, 2025
EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATAFehime Erdem Karapınar, Havva Yazıcı, Merve Yoldaş Çelik, et al.Biomed Research International|April 26, 2016
Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down SyndromeBiray Erturk, Emin Karaca, Ayca Aykut, et al.Immunologic Research|April 21, 2024
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variantsAyca Aykut, Asude Durmaz, Neslihan Karaca, et al.Journal of Breath Research|February 8, 2020
Concordance in molecular genetic analysis of tumour tissue, plasma, and exhaled breath condensate samples from lung cancer patientsAslı Tetik Vardarli, Levent Pelit, Ceyda Aldag, et al.Mycopathologia|December 18, 2025
CARD9 Mutations in Patients with Invasive Fungal InfectionsGizem Guner Ozenen, Enise Avci Durmusalioglu, Durdugul Ayyildiz Emecen, et al.Journal of Clinical Immunology|September 24, 2025
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center StudyReyhan Gumusburun, Onurcan Yıldırım, Metehan Karakoc, et al.Pageof 6