Show 15 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: subject exact "Biology and Life Sciences" cql: author exact 000120245846 or (type exact bookEditor and editor exact 000120245846) Add to list Journal Article A1 Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms Marlies Colman (UGent) , Robin Vroman (UGent) , Tibbe Dhooge, Zoë Malfait (UGent) , Sofie Symoens (UGent) , Biruté Burnyté, Sheela Nampoothiri, Ariana Kariminejad, Fransiska Malfait (UGent) and Delfien Syx (UGent) (2022) HUMAN MUTATION. 43(12). p.1994-2009 Add to list Journal Article A1 open access The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent) (2019) ORPHANET JOURNAL OF RARE DISEASES. 14. Add to list Conference Paper C3 open access Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen - Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent) (2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.