Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Autor:	Johannesen, Km, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, Al, Ville, Dm, Chatron, N, Brilstra, E, Geleijns, K, Born, Ap, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, Kl, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, Jr, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G, Møller, Rs
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	TRANSFER-RNA-SYNTHETASE ILAE COMMISSION POSITION PAPER MUTATIONS CLASSIFICATION DEFICIENCY FEATURES
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od_______310::a538ac3dabfcc002c6761bae3e1379b3 http://hdl.handle.net/2158/1192687 Zobrazit plný text záznamu