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Showing 859 - 871 of 1,979

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  • Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

    Dennis Lal, Eva M. Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M. Arfan Ikram, Cornelia M. van Duijn, Andre G. Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy , EuroEPINOMICS CoGIE Consortium , Padhraig Gormley, Felicitas Becker, Yvonne G. Weber, Maria Roberta Cilio, Wolfram S. Kunz, Roland Krause, Fritz Zimprich, Johannes R. Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A. Neubauer

    published 18 Mar 2016

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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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