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cerebellar hypoplasia
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Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia
2003 |
First Faculty of Medicine
publication
Early Diagnosis of the Chromosomal Deletion 5q14.2-q21.3 in a Preterm Newborn: Case Report
2013 |
First Faculty of Medicine
publication
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
2013 |
Second Faculty of Medicine
publication
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
2012 |
Second Faculty of Medicine
publication
CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans
2006 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové