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English

Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O. and Helbig, Katherine L. and Tang, Sha and Willing, Marcia C. and Tinkle, Brad T. and Adams, Darius J. and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M. and Mefford, Heather C. and Myers, Candace T. and Muir, Alison M. and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E. and Brilstra, Eva and van Haelst, Mieke M. and van der Smagt, Jasper J. and Bok, Levinus A. and Møller, Rikke S. and Jensen, Uffe B. and Millichap, John J. and Berg, Anne T. and Goldberg, Ethan M. and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R. and Zackai, Elaine H. and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J. and Lawson, John A. and Roscioli, Tony and Jansen, Floor E. and Ranza, Emmanuelle and Korff, Christian M. and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R. and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A. and Brady, Lauren I. and Wolff, Markus and Dondit, Lutz and Pedro, Helio F. and Parisotto, Sarah E. and Jones, Kelly L. and Patel, Anup D. and Franz, David N. and Vanzo, Rena and Marco, Elysa and Ranells, Judith D. and Di Donato, Nataliya and Dobyns, William B. and Laube, Bodo and Traynelis, Stephen F. and Lemke, Johannes R. (2017):
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
In: Journal of medical genetics, pp. 460-470, 54, (7), ISSN 1468-6244,
[Article]

Lemke, Johannes R. and Geider, Kirsten and Helbig, Katherine L. and Heyne, Henrike O. and Schütz, Hannah and Hentschel, Julia and Courage, Carolina and Depienne, Christel and Nava, Caroline and Heron, Delphine and Møller, Rikke S. and Hjalgrim, Helle and Lal, Dennis and Neubauer, Bernd A. and Nürnberg, Peter and Thiele, Holger and Kurlemann, Gerhard and Arnold, Georgianne L. and Bhambhani, Vikas and Bartholdi, Deborah and Pedurupillay, Christeen Ramane J. and Misceo, Doriana and Frengen, Eirik and Strømme, Petter and Dlugos, Dennis J. and Doherty, Emily S. and Bijlsma, Emilia K. and Ruivenkamp, Claudia A. and Hoffer, Mariette J. V. and Goldstein, Amy and Rajan, Deepa S. and Narayanan, Vinodh and Ramsey, Keri and Belnap, Newell and Schrauwen, Isabelle and Richholt, Ryan and Koeleman, Bobby P. C. and Sá, Joaquim and Mendonça, Carla and de Kovel, Carolien G. F. and Weckhuysen, Sarah and Hardies, Katia and De Jonghe, Peter and De Meirleir, Linda and Milh, Mathieu and Badens, Catherine and Lebrun, Marine and Busa, Tiffany and Francannet, Christine and Piton, Amélie and Riesch, Erik and Biskup, Saskia and Vogt, Heinrich and Dorn, Thomas and Helbig, Ingo and Michaud, Jacques L. and Laube, Bodo and Syrbe, Steffen (2016):
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
In: Neurology, pp. 2171-8, 86, (23), ISSN 1526-632X,
[Article]

This list was generated on Tue Jul 16 01:07:30 2019 CEST.