Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome
Taşdemir, S, Güzel-Ozantürk, A, Marshall, JD, Collin, GB, Özgül, RK, Narin, N, Dündar, M, Naggert, JK
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
Get full text
Journal Article
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome
Özgül, RK, Satman, I, Collin, GB, Hinman, EG, Marshall, JD, Kocaman, O, Tütüncü, Y, Yılmaz, T, Naggert, JK
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
Get full text
Journal Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in International journal of human genetics (01.01.2015)
Published in International journal of human genetics (01.01.2015)
Get full text
Journal Article
Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma
Ozgül, Riza Köksal, Bozkurt, Banu, Orcan, Serkan, Bulur, Burçin, Bagiyeva, Sefayet, Irkeç, Murat, Ogüş, Ay
Published in Molecular vision (02.11.2005)
Get full text
Published in Molecular vision (02.11.2005)
Journal Article