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Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; ... ; Gleeson, J.G.
2017
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Article / Letter to editor
open access
Lemke, J.R.; Geider, K.; Helbig, K.L.; Heyne, H.O.; Schutz, H.; Hentschel, J.; ... ; Syrbe, S.
2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Article / Letter to editor
metadata only
