Open access
Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction
Kim Rodenburg
Leony Fenwick
R. Pennings
L. Haer-Wigman
T. Ben-Yosef
Femke van Erp
Janine Reurink
Christian Gilissen
L. I. van den Born
Frans P M Cremers
Yuval Cohen
H. Yntema
E. de Vrieze
H. Kremer
Suzanne E. de Bruijn
R. W. Collin
S. Roosing
Erwin van Wijk
Biology