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Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
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
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Scherpenzeel, M. van; Timal, S.; Rymen, D.; Hoischen, A.; Wuhrer, M.; Hipgrave-Ederveen, A.; ... ; Lefeber, D.J. 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Article / Letter to editor
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