The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

Por Campeau, Philippe M, Lu, James T, Dawson, Brian C, Fokkema, Ivo F A C, Robertson, Stephen P, Gibbs, Richard A, Lee, Brendan H
Publicado em 2012

Therapeutic exon skipping for dysferlinopathies?

Por Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M
Publicado em 2010

Assessing the translational landscape of myogenic differentiation by ribosome profiling

Por de Klerk, Eleonora, Fokkema, Ivo F.A.C., Thiadens, Klaske A.M.H., Goeman, Jelle J., Palmblad, Magnus, den Dunnen, Johan T., von Lindern, Marieke, ‘t Hoen, Peter A.C.
Publicado no Nucleic Acids Res (2015)