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 13CBBADE-2177-11E3-825E-776F10BDE39D or (type any "bookEditor journalEditor issueEdi... cql: keyword exact "blm" 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 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, Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent) (2020) 19th Biennial Meeting of The European Society of Immunodeficiencies (ESID 2020), Abstracts. 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)