Show 100 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 "splice site mutation" Add to list Journal Article A1 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients Kristien Hoornaert (UGent) , Inge Vereecke (UGent) , Chantal Dewinter (UGent) , Thomas Rosenberg, Frits A Beemer, Juliaan Leroy (UGent) , Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, et al. (2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(8). p.872-880