Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation by Gürkan Gürbüz, Hatice Mutlu Albayrak

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The Spectrum of NF1 Gene Variations in Southeastern Turkey by Emre Kırat, Hatice Mutlu Albayrak

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Common Obesity Syndromes in Childhood by Hatice Mutlu Albayrak, Beray Selver Eklioğlu

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Fetal Valproate Syndrome by Hatice Mutlu-Albayrak, Cahide Bulut, Hüseyin Çaksen

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Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect by Hatice Mutlu-Albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyin Çaksen, Bela Melegh

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Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience by Ayşe Ergül Bozacı, Emine Göksoy, Aysel Tekmenuray Ünal, Hatice Mutlu Albayrak, İbrahim Taş, Berat Kanar, Mehmet Nuri Özbek, Melis Köse

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations by Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

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