Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Por Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra
Publicado no Intractable Rare Dis Res (2016)

Myophosphorylase (PYGM) Mutations Determined by Next Generation Sequencing in a Cohort from Turkey with McArdle Disease

Por Inal-Gültekin, Güldal, Toptaş-Hekimoğlu, Bahar, Görmez, Zeliha, Gelişin, Özlem, Durmuş, Hacer, Ergüner, Bekir, Demirci, Hüseyin, Sağıroğlu, Mahmut Ş., Parman, Yeşim, Deymeer, Feza, Yılmaz-Aydoğan, Hülya, Pençe, Sadrettin, Bekircan-Kurt, Can Ebru, Tan, Ersin, Erdem-Özdamar, Sevim, Üstek, Duran, Giger, Urs, Öztürk, Oğuz, Serdaroğlu-Oflazer, Piraye
Publicado no Neuromuscul Disord (2017)

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Por Cetinkaya, Arda, Xiong, Jingwei Rachel, Vargel, İbrahim, Kösemehmetoğlu, Kemal, Canter, Halil İbrahim, Gerdan, Ömer Faruk, Longo, Nicola, Alzahrani, Ahmad, Camps, Mireia Perez, Taskiran, Ekim Zihni, Laupheimer, Simone, Botto, Lorenzo D., Paramalingam, Eeswari, Gormez, Zeliha, Uz, Elif, Yuksel, Bayram, Ruacan, Şevket, Sağıroğlu, Mahmut Şamil, Takahashi, Tokiharu, Reversade, Bruno, Akarsu, Nurten Ayse
Publicado no Am J Hum Genet (2016)