Search Results - Scheffer, Ingrid E.

The spectrum of neurologic phenotypes associated with NUS1 pathogenic variants: a comprehensive case series by Brooker, Sarah (Author) , Novelli, Maria (Author) , Coukos, Robert (Author) , Prakash, Neha (Author) , Kamel, Walaa A. (Author) , Amengual-Gual, Marta (Author) , Anheim, Mathieu (Author) , Barcia, Giulia (Author) , Bardakjian, Tanya (Author) , Baur, Franciska (Author) , Berweck, Steffen (Author) , Bölsterli, Bigna K. (Author) , Brugger, Melanie (Author) , Cassini, Thomas (Author) , Chatron, Nicolas (Author) , Corner, Brian (Author) , Dafsari, Hormos Salimi (Author) , de Sainte Agathe, Jean-Madeleine (Author) , Ellis, Colin A. (Author) , Ezell, Kimberly M. (Author) , Foucard, Cendrine (Author) , Frucht, Steven J. (Author) , Garcia, Maria C. (Author) , Gill, Deepak (Author) , Guimier, Anne (Author) , Hamid, Rizwan (Author) , Heine-Suñer, Damià (Author) , Herkenrath, Peter (Author) , Hully, Marie (Author) , Isaias, Ioannis U. (Author) , Januel, Louis (Author) , Laurencin, Chloe (Author) , Laut, Taylor (Author) , Lavillaureix, Alinoe (Author) , Lesca, Gaetan (Author) , Lesieur-Sebellin, Marion (Author) , Magistrelli, Luca (Author) , Marelli, Cecilia (Author) , Mefford, Heather C. (Author) , Mendelsohn, Bryce A. (Author) , Mercimek-Andrews, Saadet (Author) , Miller, Claire (Author) , Mohammad, Shekeeb S. (Author) , Morgante, Francesca (Author) , Nandipati, Sirisha (Author) , Opladen, Thomas (Author) , Padmanaban, Mahesh (Author) , Pauni, Micaela (Author) , Pezzoli, Gianni (Author) , Piton, Amelie (Author) , Ramond, Francis (Author) , Riboldi, Giulietta M. (Author) , Rougeot-Jung, Christelle (Author) , Santos-Simarro, Fernando (Author) , Scheffer, Ingrid E. (Author) , Serari, Naoual (Author) , Stahl, Christine M. (Author) , Kung, Ann Stembridge (Author) , Tarongí Sanchez, Susana (Author) , Thauvin-Robinet, Christel (Author) , Till, Marianne (Author) , Tranchant, Christine (Author) , Troedson, Christopher (Author) , Tropea, Thomas F. (Author) , Vanakker, Olivier (Author) , Vega, Patricia (Author) , Wiese, Maxi Leona (Author) , Wieshmann, Udo (Author) , Williams, Laura J. (Author) , Wirth, Thomas (Author) , Zech, Michael (Author) , Zempel, Hans (Author) , Roze, Emmanuel (Author) , Leuzzi, Vincenzo (Author) , Galosi, Serena (Author) , Fung, Victor S. C. (Author) , Carvill, Gemma (Author) , Krainc, Dimitri (Author) , Gerard, Elizabeth (Author) , Mencacci, Niccolò E. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications by Brunklaus, Andreas (Author) , Brünger, Tobias (Author) , Feng, Tony (Author) , Fons, Carmen (Author) , Lehikoinen, Anni (Author) , Panagiotakaki, Eleni (Author) , Vintan, Mihaela-Adela (Author) , Symonds, Joseph (Author) , Andrew, James (Author) , Arzimanoglou, Alexis (Author) , Delima, Sarah (Author) , Gallois, Julie (Author) , Hanrahan, Donncha (Author) , Lesca, Gaetan (Author) , MacLeod, Stewart (Author) , Marjanovic, Dragan (Author) , McTague, Amy (Author) , Nuñez-Enamorado, Noemi (Author) , Perez-Palma, Eduardo (Author) , Scott Perry, M (Author) , Pysden, Karen (Author) , Russ-Hall, Sophie J (Author) , Scheffer, Ingrid E (Author) , Sully, Krystal (Author) , Syrbe, Steffen (Author) , Vaher, Ulvi (Author) , Velayutham, Murugan (Author) , Vogt, Julie (Author) , Weiss, Shelly (Author) , Wirrell, Elaine (Author) , Zuberi, Sameer M (Author) , Lal, Dennis (Author) , Møller, Rikke S (Author) , Mantegazza, Massimo (Author) , Cestèle, Sandrine (Author) ,

• Verlag, lizenzpflichtig, Volltext

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria by Vetro, Annalisa (Author) , Nielsen, Hang N (Author) , Holm, Rikke (Author) , Hevner, Robert F (Author) , Parrini, Elena (Author) , Powis, Zoe (Author) , Møller, Rikke S (Author) , Bellan, Cristina (Author) , Simonati, Alessandro (Author) , Lesca, Gaétan (Author) , Helbig, Katherine L (Author) , Palmer, Elizabeth E (Author) , Mei, Davide (Author) , Ballardini, Elisa (Author) , Van Haeringen, Arie (Author) , Syrbe, Steffen (Author) , Leuzzi, Vincenzo (Author) , Cioni, Giovanni (Author) , Curry, Cynthia J (Author) , Costain, Gregory (Author) , Santucci, Margherita (Author) , Chong, Karen (Author) , Mancini, Grazia M S (Author) , Clayton-Smith, Jill (Author) , Bigoni, Stefania (Author) , Scheffer, Ingrid E (Author) , Dobyns, William B (Author) , Vilsen, Bente (Author) , Guerrini, Renzo (Author) ,

• Verlag, lizenzpflichtig, Volltext