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Molecular Syndromology|June 20, 2025
First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional MalformationsSerap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, et al.Molecular Syndromology|December 13, 2021
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric PatientsAkçahan Akalın, İlker Ertuğrul, Pelin Özlem Şimşek-Kiper, et al.The Turkish Journal of Pediatrics|January 13, 2022
The rare reason of pain in hip girdle: Mucolipidosis type 3 gammaAbdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, et al.Korean Journal of Family Medicine|April 1, 2017
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams SyndromeÖzlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, et al.Birth Defects Research|December 13, 2023
CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a caseTutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, et al.The Turkish Journal of Pediatrics|October 13, 2009
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromesPelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, et al.European Journal of Medical Genetics|February 14, 2024
A rare skeletal dysplasia in the etiology of severe scoliosis: DiaphanospondylodysostosisTuğba Daşar, Adalet Elçin Yıldız, Gökhan Demirkıran, et al.American Journal of Medical Genetics. Part A|April 2, 2010
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosisGülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, et al.The Turkish Journal of Pediatrics|October 13, 2009
Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patientsGülen Eda Utine, Tolga Celik, Yasemin Alanay, et al.Journal of the National Medical Association|February 13, 2025
Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?Merve Tanrısever Türk, Gizem Ürel Demir, Gülen Eda Utine, et al.Pageof 7