Výsledky vyhledávání - Susanne Blichfeldt
- Zobrazuji výsledky 1 - 3 z 3
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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 Autor 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
Vydáno 2015Artigo -
2
Mutations in <i>GABRB3</i> Autor Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic
Vydáno 2017Artigo -
3
The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy Autor Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller
Vydáno 2019Artigo