検索結果 - Birgit Jepsen

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  1. 1
    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome

    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome 著者: Jan Larsen, Katrine M. Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd A. Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael A. Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels Tommerup, Ulrich Stephani, Renzo Guerrini, Morten Dunø, Helle Hjalgrim, Deb K. Pal, Ingo Helbig, Rikke S. Møller

    出版事項 2015
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    Artigo
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  2. 2
    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy

    The phenotype of <i>SCN8A</i> developmental and epileptic encephalopathy 著者: Elena Gardella, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, Sabrina Siliquini, Bigna K. Bölsterli, Silva Masnada, Anna Pichiecchio, Katrine M. Johannesen, Birgit Jepsen, Elena Fontana, Gaia Anibaldi, Silvia Russo, Francesca Cogliati, Martino Montomoli, Nicola Specchio, Guido Rubboli, Pierangelo Veggiotti, Sándor Beniczky, Markus Wolff, Ingo Helbig, Federico Vigevano, Ingrid E. Scheffer, Renzo Guerrini, Rikke S. Møller

    出版事項 2018
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    Artigo
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  3. 3
    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies 著者: Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, María J. Miranda, Muhammad Farooq, Jens Erik Nielsen, Lene Lavard Svendsen, Ditte B. Kjelgaard, Karen Markussen Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid Mahmood Baig, Uzma Abdullah, Alfred Peter Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanović, Lana I.K. Al-Zehhawi, Sofia J. Peñalva, B Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K. Pal, Hans A. Dahl

    出版事項 2016
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    Artigo
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  4. 4
    The phenotypic spectrum of <i>SCN8A</i> encephalopathy

    The phenotypic spectrum of <i>SCN8A</i> encephalopathy 著者: Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    出版事項 2015
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    Artigo
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