MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS by Umut Altunoğlu, Nilay Güneş, Gözde Tutku Turgut, Tuğba Kalaycı, Ayça Dilruba Aslanger, Murat Derbent, Serpil Eraslan, Birsen Karaman, Zehra Oya Uyguner, Beyhan Tüysüz, Yasemin Alanay, Hülya Kayserili Karabey

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CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE by Ayça Dilruba Aslanger, Tuğba Kalaycı, Esma Nur Konur, Çağrı Güleç, Şahin Avcı, Umut Altunoğlu, Volkan Karaman, Güven Toksoy, Birsen Karaman, Seher Başaran, Zehra Oya Uyguner, Gözde Yeşil Sayın

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JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE by Ayça Dilruba Aslanger, Behiye Tuğçe Yıldırım, Tuğba Kalaycı, Leyli Şentürk, Şahin Avcı, Umut Altunoğlu, Çağrı Güleç, Volkan Karaman, Güzide Doğan, Zerrin Önal, Özlem Durmaz, Birsen Karaman, Zehra Oya Uyguner

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Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation by Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

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