Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family von Gun Bilgic, Dilek, Gerik Celebi, Hamide Betul, Aydin Gumus, Aydeniz, Bilgic, Abdulkadir, Yazici, Havva, Ceylaner, Serdar, Yilmaz, Celil, Polat, Muzaffer, Akbal Sahin, Melike, Dereli, Fatma, Cam, Fethi Sirri

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A new clinical entity in T704M mutation in periodic paralysis von Gun Bilgic, Dilek, Aydin Gumus, Aydeniz, Gerik Celebi, Hamide Betul, Bilgic, Abdulkadir, Unaltuna Erginel, Nihan, Cam, Fethi Sirri

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey von Bisgin, Atil, Sag, Sebnem Ozemri, Dogan, Muhammet E., Yildirim, Mahmut S., Gumus, Aydeniz Aydin, Akkus, Nejmiye, Balasar, Ozgur, Durmaz, Ceren D., Eroz, Recep, Altiner, Sule, Alemdar, Adem, Aliyeva, Lamia, Boga, Ibrahim, Cam, Fethi S., Dogan, Berkcan, Esbah, Onur, Hanta, Abdullah, Mujde, Cem, Ornek, Cemre, Ozer, Sinem, Rencuzogullari, Cagla, Sonmezler, Ozge, Bozdogan, Sevcan Tug, Dundar, Munis, Temel, Sehime G.

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Genes predisposing tunneled catheter thrombosis in hemodialysis patients von Amanvermez Senarslan, Dilsad, Aydın Gümüş, Aydeniz, Cam, Fethi Sırrı, Kurdal, Adnan Taner

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Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion von Kablan, Ahmet, Aru, Esma Ertürkmen, Atar, Süleyman, Gumus, Aydeniz Aydin, İli, Ezgi Gökpınar, Kayhan, Gulsum, Tekin, Koray, Silan, Fatma

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OP-066 A mutation leading to rare neurodevelopmental disorder unique to Turkish population von Ekici Ibrahimoglu, Fulya Sibel, Yucel, Peren Perk, Kafadar, Ihsan, Gümüş, Aydeniz Aydın

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