Show 20 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 801000878313 cql: author exact 001996037506 Add to list Journal Article A1 Phenotype of a Belgian family with 6p25 deletion syndrome NICOLE WEEGERINK (UGent) , Freya Swinnen (UGent) , Olivier Vanakker (UGent) , Jan W Casselman and Ingeborg Dhooge (UGent) (2016) ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY. 125(9). p.734-745 Add to list Conference Paper C3 Stickler syndrome: comprehensive clinical and molecular analysis Frederic Acke (UGent) , Paul Coucke (UGent) , Olivier Vanakker (UGent) , Kristien Hoornaert (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Fransiska Malfait (UGent) (2016) European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book. Add to list Conference Paper C3 Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis Frederic Acke (UGent) , Paul Coucke (UGent) , Olivier Vanakker (UGent) , Kristien Hoornaert (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Fransiska Malfait (UGent) (2014) American Society of Human Genetics, 64th Annual meeting, Abstracts. Add to list Journal Article A1 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing Frederic Acke (UGent) , Fransiska Malfait (UGent) , Olivier Vanakker (UGent) , Wouter Steyaert (UGent) , Kim De Leeneer (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Paul Coucke (UGent) (2014) MOLECULAR GENETICS AND METABOLISM. 113(3). p.230-235 Add to list Conference Paper C3 Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing Frederic Acke (UGent) , Fransiska Malfait (UGent) , Olivier Vanakker (UGent) , Wouter Steyaert (UGent) , Kim De Leeneer (UGent) , Geert Mortier (UGent) , Ingeborg Dhooge (UGent) , Anne De Paepe (UGent) , Els De Leenheer (UGent) and Paul Coucke (UGent) (2013) American Society of Human Genetics, 63rd Annual meeting, Abstracts.