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 "phenotypic spectrum" Add to list Journal Article A1 Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum Ilse Meerschaut (UGent) , Aude Beyens (UGent) , Wouter Steyaert (UGent) , Riet De Rycke (UGent) , Katrien Bonte, Tine De Backer (UGent) , Sandra Janssens (UGent) , Joseph Panzer (UGent) , Frank Plasschaert (UGent) , Daniël De Wolf (UGent) , et al. (2019) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 179(12). p.2494-2499 Add to list Journal Article A1 open access Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, et al. (2018) ORPHANET JOURNAL OF RARE DISEASES. 13. Add to list Journal Article A1 Czech dysplasia metatarsal type: another type II collagen disorder Kristien Hoornaert (UGent) , Ivo Marik, Kazimierz Kozlowski, Trevor Cole, Martine Le Merrer, Juliaan Leroy (UGent) , Paul Coucke (UGent) , David Sillence and Geert Mortier (UGent) (2007) EUROPEAN JOURNAL OF HUMAN GENETICS. 15(12). p.1269-1275