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Showing 53 - 65 of 123

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  • Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    published 14 Mar 2016

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  • Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M. Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    published 14 Jan 2016

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