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 "exon" Add to list Journal Article A1 open access A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease Matthew Moll, Victoria E. Jackson, Bing Yu, Megan L. Grove, Stephanie J. London, Sina A. Gharib, Traci M. Bartz, Colleen M. Sitlani, Josee Dupuis, George T. O'Connor, et al. (2021) AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY. 321(1). p.L130-L143 Add to list Journal Article A1 A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review Mehmet B Duz, Emre Kirat, Paul Coucke (UGent) , Erkan Koparir, Alper Gezdirici, Anne De Paepe (UGent) , Bert Callewaert (UGent) and Mehmet Seven (2017) CLINICAL DYSMORPHOLOGY. 26(3). p.142-147 Add to list Journal Article A1 open access A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement Sofie Symoens (UGent) , Fransiska Malfait (UGent) , Philip Vlummens, Trinh Hermanns-Le, Delfien Syx (UGent) and Anne De Paepe (UGent) (2011) PLOS ONE. 6(5). Add to list Journal Article A1 Exon prediction in eucaryotic genomes L Vignal, Y d'Aubento-Carafa, F Lisacek, E Mephu Nguifo, Pierre Rouzé (UGent) , J Quinqueton and C Thermes (1996) BIOCHIMIE. 78(5). p.327-334