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1 Ergebnisse
1
GRIN2B encephalopathy : novel findings on phenotype, varian..:
Platzer, Konrad
;
Yuan, Hongjie
;
Schuetz, Hannah
...
10.1136/jmedgenet-2016-104509. , 2018
Link:
http://hdl.handle.net/10138/232095
RT Journal T1
GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_232095&Exemplar=1&LAN=DE A1 Platzer, Konrad A1 Yuan, Hongjie A1 Schuetz, Hannah A1 Winschel, Alexander A1 Chen, Wenjuan A1 Hu, Chun A1 Kusumoto, Hirofumi A1 Heyne, Henrike O A1 Helbig, Katherine L A1 Tang, Sha A1 Willing, Marcia C A1 Tinkle, Brad T A1 Adams, Darius J A1 Depienne, Christel A1 Keren, Boris A1 Mignot, Cyril A1 Frengen, Eirik A1 Stromme, Petter A1 Biskup, Saskia A1 Doecker, Dennis A1 Strom, Tim M A1 Mefford, Heather C A1 Myers, Candace T A1 Muir, Alison M A1 LaCroix, Amy A1 Sadleir, Lynette A1 Scheffer, Ingrid E A1 Brilstra, Eva A1 van Haelst, Mieke M A1 van der Smagt, Jasper J A1 Bok, Levinus A A1 Moller, Rikke S A1 Jensen, Uffe B A1 Millichap, John J A1 Berg, Anne T A1 Goldberg, Ethan M A1 De Bie, Isabelle A1 Fox, Stephanie A1 Major, Philippe A1 Jones, Julie R A1 Zackai, Elaine H A1 Abou Jamra, Rami A1 Rolfs, Arndt A1 Leventer, Richard J A1 Lawson, John A A1 Roscioli, Tony A1 Jansen, Floor E A1 Ranza, Emmanuelle A1 Korff, Christian M A1 Lehesjoki, Anna-Elina A1 Courage, Carolina A1 Linnankivi, Tarja A1 Smith, Douglas R A1 Stanley, Christine A1 Mintz, Mark A1 McKnight, Dianalee A1 Decker, Amy A1 Tan, Wen-Hann A1 Tarnopolsky, Mark A A1 Brady, Lauren I A1 Wolff, Markus A1 Dondit, Lutz A1 Pedro, Helio F A1 Parisotto, Sarah E A1 Jones, Kelly L A1 Patel, Anup D A1 Franz, David N A1 Vanzo, Rena A1 Marco, Elysa A1 Ranells, Judith D A1 Di Donato, Nataliya A1 Dobyns, William B A1 Laube, Bodo A1 Traynelis, Stephen F A1 Lemke, Johannes R PB BMJ Publishing Group Ltd YR 2018 K1 DE-NOVO MUTATIONS K1 AUTISM SPECTRUM DISORDERS K1 INTELLECTUAL DISABILITY K1 NEURODEVELOPMENTAL DISORDERS K1 NMDA RECEPTORS K1 FOCAL EPILEPSY K1 SUBUNIT K1 GENES K1 INDIVIDUALS K1 MIGRATION K1 3111 Biomedicine K1 1184 Genetics K1 developmental biology K1 physiology K1 3112 Neurosciences K1 3124 Neurology and psychiatry JF 10.1136/jmedgenet-2016-104509 LK http://hdl.handle.net/10138/232095 DO http://hdl.handle.net/10138/232095 SF ELIB - SuUB Bremen
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