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: author exact FFE4A900-F0ED-11E1-A9DE-61C894A0A6B4 cql: author exact F6A4B240-F0ED-11E1-A9DE-61C894A0A6B4 Add to list Journal Article A1 open access A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation Simon Tavernier (UGent) , V Athanasopoulos, Patrick Verloo (UGent) , G Behrens, Jens Staal (UGent) , Delfien Bogaert (UGent) , Leslie Naesens (UGent) , Marieke De Bruyne (UGent) , Sofie Van Gassen (UGent) , Eef Parthoens (UGent) , et al. (2019) NATURE COMMUNICATIONS. 10. Add to list Conference Paper C3 Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2 Patrick Verloo (UGent) , Joél Smet (UGent) , Elise Vantroys, Arnaud Vanlander (UGent) , Sarah Vergult (UGent) , Tom Sante (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent) (2016) JOURNAL OF INHERITED METABOLIC DISEASE. 39(suppl. 1). p.S164-S164 Add to list Conference Paper C3 RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome FILOMEEN HAERYNCK (UGent) , Patrick Verloo (UGent) , Delfien Bogaert (UGent) , Joél Smet (UGent) , Arnaud Vanlander (UGent) , Maria Bordon Cueto De Braem (UGent) , Helene Verhelst (UGent) , Rudy Van Coster (UGent) , Björn Menten (UGent) and Melissa Dullaers (UGent) (2016) European Society for Immunodeficiencies, 17th Biennial meeting, Abstracts. Add to list Journal Article A1 Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster Helene Verhelst (UGent) , Patrick Verloo (UGent) , Karlien Dhondt (UGent) , Boel De Paepe (UGent) , Björn Menten (UGent) , Josep Dalmau and Rudy Van Coster (UGent) (2011) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 15(2). p.163-166