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: author exact 801000777572 or (type any "bookEditor issueEditor" and editor exact 801000777572) cql: keyword exact "gene" 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 Add to list Journal Article A1 open access Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas Remko Hersmus, Hans Stoop, Gert Jan van de Geijn, Ronak Eini, Katharina Biermann, J Wolter Oosterhuis, Catharina Dhooge (UGent) , Dominik T Schneider, Isabelle C Meijssen, Winand NM Dinjens, et al. (2012) PLOS ONE. 7(8). Add to list Journal Article A1 Repetitive analyses of P-glycoprotein in chronic myeloid leukaemia Barbara De Moerloose (UGent) , A Muylaert, F Gemmel, Anne Janssens (UGent) , Bruce Poppe (UGent) , Catharina Dhooge (UGent) , Werner Van Hove and Jan Philippé (UGent) (2000) ACTA CLINICA BELGICA. 55(4). p.215-221