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 "CONGENITAL MUSCULAR-DYSTROPHY" Add to list Journal Article A1 open access Expanding the phenotype of B3GALNT2-related disorders Erika D'haenens (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) , Annelies Dheedene (UGent) , R. Frank Kooy and Bert Callewaert (UGent) (2022) GENES. 13(4). Add to list Journal Article A1 open access A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses Bart J Ducro, Anouk Schurink, John WM Bastiaansen, Iris JM Boegheim, Frank G van Steenbeek, Manon Vos-Loohuis, Isaac J Nijman, Glen R Monroe, Ids Hellinga, Bert W Dibbits, et al. (2015) BMC GENOMICS. 16. Add to list Journal Article A1 Compound heterozygous mutations of the TNXB gene cause primary myopathy Isabelle Pénisson-Besnier, Valérie Allamand, Philippe Beurrier, Ludovic Martin, Joost Schalkwijk, Ivonne van Vlijmen-Willems, Corine Gartioux, Fransiska Malfait (UGent) , Delfien Syx (UGent) , Laurent Macchi, et al. (2013) NEUROMUSCULAR DISORDERS. 23(8). p.664-669 Add to list Journal Article A1 Natural history of pulmonary function in collagen VI-related myopathies A Reghan Foley, Susana Quijano-Roy, James Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck (UGent) , Eugenio Mercuri, Marika Pane, Adele D'Amico, Enrico Bertini, et al. (2013) BRAIN. 136(12). p.3625-3633 Add to list Journal Article A1 Ehlers-Danios syndromes and Marfan syndrome Bert Callewaert (UGent) , Fransiska Malfait (UGent) , Bart Loeys (UGent) and Anne De Paepe (UGent) (2008) BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY. 22(1). p.165-189