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Marin-Valencia, I.; Gerondopoulos, A.; Zaki, M.S.; Ben-Omran, T.; Almureikhi, M.; Demir, E.; ... ; Gleeson, J.G.
2017
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
Article / Letter to editor
open access
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
