Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population by Koray Boduroğlu, Yasemin Alanay, Mehmet Alikaşifoğlu, Dilek Aktaş, Ergül Tunçbilek

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Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene by Esra Kılıç, İlker Ertuğrul, Sema Özer, Mehmet Alikaşifoğlu, Dilek Aktaş, Koray Boduroğlu, Gülen Eda Ütine

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Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients by Gülen Eda Utine, Tolga Celik, Yasemin Alanay, Mehmet Alikaşifoğlu, Koray Boduroğlu, Ergül Tunçbilek, Dilek Aktaş

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Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study by Yeşim Aydın-Son, Ezgi Deniz Batu, Erkan Demirkaya, Yelda Bilginer, Özgür Kasapçopur, Erbil Ünsal, Mehmet Alikaşifoglu, Seza Özen

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Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome by Arda Çetinkaya, Ekim Taşkıran, Tutku Soyer, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine, Gökhan Tunçbilek, Koray Boduroğlu, Mehmet Alikaşifoğlu

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