检索结果 - Corinna Hartmann

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    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability 由 Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

    出版 2016
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  2. 2
    <i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome

    <i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome 由 Gemma L. Carvill, Sarah Weckhuysen, Jacinta M. McMahon, Corinna Hartmann, Rikke S. Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J. O’Roak, Steven Petrou, Alison L. Clarke, Deepak Gill, Lynette G. Sadleir, Hiltrud Muhle, Sarah von Spiczak, Marina Nikanorova, Bree Hodgson, Elena V. Gazina, Arvid Suls, Jay Shendure, Leanne M. Dibbens, Peter De Jonghe, Ingo Helbig, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    出版 2014
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    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations 由 Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn, Anna‐Kaisa Anttonen, Eva H. Brilstra, Hande Çağlayan, Carolien G. F. de Kovel, Christel Depienne, Eija Gaily, Elena Di Gennaro, Beatriz G. Giráldez, Padhraig Gormley, Rosa Guerrero, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P.C. Koeleman, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls

    出版 2016
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