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American Journal of Medical Genetics. Part A|April 14, 2017
A further family of Stromme syndrome carrying CENPF mutationFerda Ozkinay, Tahir Atik, Esra Isik, et al.Journal of Clinical Research in Pediatric Endocrinology|May 16, 2019
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External GenitaliaEsra Işık, Hüseyin Onay, Tahir Atik, et al.Journal of Pediatric Hematology/Oncology|December 8, 2025
GNE Mutation-related Congenital Thrombocytopenia in 2 Siblings: Case Reports and Literature ReviewYeter Düzenli Kar, Melike Sezgin Evim, Ugur Cem Mete, et al.European Journal of Medical Genetics|September 13, 2022
LSM1 is the new candidate gene for neurodevelopmental disorderGizem Kok Kilic, Esra Isik, Omer Alpay, et al.Turkish Journal of Ophthalmology|June 21, 2017
Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in DiagnosisSevinç Şahin Atik, Aslı Ece Solmaz, Zafer Öztaş, et al.American Journal of Medical Genetics. Part A|November 20, 2024
From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System InvolvementEnise Avci Durmusalioglu, Yusuf Can Dogan, Turkan Turkut Tan, et al.American Journal of Medical Genetics. Part A|April 16, 2025
Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case ReportAslı Aşık, Ezgi Cansu Fırıncıoğulları, Enise Avcı Durmuşalioğlu, et al.Endocrine Research|May 8, 2018
A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuriaBanu Yurekli, Nilufer Ozdemir Kutbay, Canan Altay, et al.Journal of Clinical Research in Pediatric Endocrinology|August 29, 2015
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and MenstruationGönül Çatlı, Caner Alparslan, P Şule Can, et al.Ophthalmic Genetics|August 6, 2025
Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish populationSevinc Sahin, Enise Avcı Durmusalioglu, Basak Durmus, et al.Pageof 10