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Journal of Child Neurology|April 25, 2013
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophyG Eda Utine, Göknur Haliloğlu, Bilge Salanci, et al.The Turkish Journal of Pediatrics|February 2, 2010
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasiaGülten Türkkani-Asal, Yasemin Alanay, Tuba Turul-Ozgür, et al.European Journal of Medical Genetics|January 31, 2023
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patientsAkçahan Akalın, Cansu Özşin, Nagihan Koç, et al.American Journal of Medical Genetics. Part A|August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patientsMathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, 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.Journal of Child Neurology|March 16, 2026
Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case ReportEylul Aydin, Aybike S Bulut, Berkay Yildiz, et al.American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.American Journal of Human Genetics|December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaJan Hellemans, Marleen Simon, Annelies Dheedene, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 11, 2014
Etiological yield of SNP microarrays in idiopathic intellectual disabilityG Eda Utine, Göknur Haliloğlu, Bilge Volkan-Salancı, et al.Pageof 15