EDITOR’S PICK: CLASSIFICATION OF PONTOCEREBELLAR HYPOPLASIA: WHERE DOES IT END?

by Bart Appelhof, Peter G. Barth, Frank Baas
Published 2019-11-01

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Published 2015-01-01