Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: keyword exact "cohen-syndrome" cql: author exact 002005447011 or (type exact bookEditor and editor exact 002005447011) Add to list Journal Article A1 Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation Ilse Meerschaut (UGent) , Maria Bordon Cueto De Braem (UGent) , Catharina Dhooge (UGent) , Patricia Delbeke, Arnaud Vanlander (UGent) , Amos Simon, Christoph Klein, R Frank Kooy, Raz Somech and Bert Callewaert (UGent) (2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(12). p.3214-3218