A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation by Suzan Süncak, Filiz Hazan, Coşkun Armağan, Ceren Yılmaz Uzman, Semra Gürsoy, Özlem Giray Bozkaya

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A newborn with monosomy X in association with corpus callosum agenesis by Duygu Onur Cura, Burcin Iscan, Semra Gursoy, Handan Guleryuz, Tufan Cankaya, Tulay Ozturk, Ozlem Giray Bozkaya

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Congenital cardiac defects with 22q11 deletion by Ozlem Giray, Ayfer Ulgenalp, Elçin Bora, Gül Sağin Saylam, Nurettin Unal, Timur Meşe, Suphi Hüdaoğlu, Derya Erçal

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Autoimmune/autoinflammatory syndrome induced by adjuvants after multi-component meningococcal serogroup B vaccination in a 7-year-old girl: a case report by Özge Atay, Suna Asilsoy, Gizem Atakul, Serdar Al, Özge Kangallı Boyacıoğlu, Tayfun Çinleti, Nevin Uzuner, Özlem Giray Bozkaya, Özkan Karaman

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The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever by Eser Dogan, Semra Gursoy, Giray Bozkaya, Secil Arslansoyu Camlar, Ozge Aksel Kilicarslan, Alper Soylu, Ayfer Ulgenalp, Salih Kavukcu, Ozlem Giray Bozkaya

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Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy by Ayfer Ulgenalp, Ferda Ozkinay, Eray Dirik, Sarenur Tütüncüoğlu, Gülşen Dizdarer, Nedret Uran, Hatice Karasoy, Gül Sağin-Saylam, Semra Kurul, Tülin Hizli, Elçin Bora, Ozlem Giray, Derya Erçal

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