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European Journal of Medical Genetics|September 16, 2018
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrumÖzlem Akgün Doğan, Gizem Ürel Demir, Can Kosukcu, et al.Molecular Syndromology|April 8, 2020
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)Gizem Ürel-Demir, Özlem Akgün-Doğan, Sümeyra Oğuz, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|December 25, 2017
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X RegistryGülen Eda Utine, Pelin Özlem Şimşek-Kiper, Özlem Akgün-Doğan, et al.European Journal of Medical Genetics|October 4, 2022
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathyTuğba Daşar, Pelin Özlem Şimşek-Kiper, Ekim Zihni Taşkıran, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral SpectrumNaz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.The Turkish Journal of Pediatrics|April 11, 2019
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single centerGözdem Kaykı, Şafak Güçer, Zuhal Akçören, et al.Neuromuscular Disorders : NMD|December 30, 2025
Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentationHatice Bektaş, Nagihan Şener, Neslihan Bilgin, et al.Molecular Syndromology|July 29, 2026
Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case StudySerap Ketenci-İşlek, Gizem Ürel-Demir, Ceren Günbey, et al.Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.Journal of Sleep Research|May 2, 2023
Evaluation of polysomnography findings in children with genetic skeletal disordersHalime Nayır Büyükşahin, Nagehan Emiralioglu, Pelin Özlem Simşek Kiper, et al.Pageof 7