Show 20 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 D5A295B6-0D08-11E3-B9ED-229510BDE39D or (type any "bookEditor issueEditor" and edito... cql: keyword exact "recql3" Add to list Journal Article A1 Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent) (2021) CLINICAL GENETICS. 99(2). p.292-297 Add to list Conference Paper C3 First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation Lynn Backers (UGent) , Bram Parton (UGent) , Stephanie Vermeulen (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Anne Vral (UGent) , Ans Baeyens (UGent) , Filomeen Haerynck (UGent) , Bart Lambrecht (UGent) , et al. (2020)