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The Turkish Journal of Pediatrics|January 26, 2012
A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotypePelin Ozlem Simşek-Kiper, Gülen Eda Utine, Yasemin Alanay, et al.
American Journal of Medical Genetics. Part A|May 2, 2015
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysisEda Didem Kurt-Sukur, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine, et al.
The Turkish Journal of Pediatrics|May 23, 2013
Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephalySahin Takcı, Ayşe Korkmaz, Pelin Ozlem Simşek-Kiper, et al.
Molecular Syndromology|June 16, 2023
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson SyndromeNaz Güleray Lafcı, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
Pediatric Research|March 25, 2026
Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markersGizem Ürel Demir, Adalet Elçin Yıldız, Yaman Muşdal, et al.
European Journal of Medical Genetics|May 9, 2019
Ophthalmo-acromelic syndrome in an infantGizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, et al.
American Journal of Medical Genetics. Part A|January 11, 2023
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial featuresAkçahan Akalın, Pelin Özlem Şimşek-Kiper, Ekim Z Taşkıran, et al.
Molecular Syndromology|August 9, 2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 VariantsGizem Ürel-Demir, Burak Başer, Rahşan Göçmen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 28, 2021
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotypeGizem Ürel-Demir, Pelin Özlem Şimşek-Kiper, İbrahim Öncel, et al.
Pediatric Dermatology|January 23, 2020
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythemaBasak Yalici-Armagan, Serkan Kabacam, Zihni Ekim Taskiran, et al.
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