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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.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.The Journal of Clinical Endocrinology and Metabolism|February 22, 2023
Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial LipodystrophySuleyman Cem Adiyaman, Canan Altay, Berfu Y Kamisli, 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.Journal of Clinical Research in Pediatric Endocrinology|April 11, 2025
Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center ExperienceAkçahan Akalın, Enise Avcı Durmuşalioğlu, Şervan Özkalkak, et al.American Journal of Medical Genetics. Part A|June 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, et al.European Journal of Human Genetics : EJHG|February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 9, 2025
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutationsFehime Erdem, Ebru Canda, Havva Yazıcı, et al.European Journal of Pediatrics|December 6, 2024
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from TurkeyAkçahan Akalın, Şervan Özalkak, Ruken Yıldırım, et al.Pageof 10