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="Venselaar, Hanka" or (type exact bookEditor and editor="Venselaar, Hanka") Add to list Journal Article A1 open access Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne Kraaij, Hanka Venselaar, Alexander Hoischen, Zsolt Urban, Ulrich Brandt, et al. (2020) JOURNAL OF INHERITED METABOLIC DISEASE. 43(6). p.1382-1391 Add to list Journal Article A1 Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(1). p.99-110 Add to list Journal Article A1 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction Susanne Roosing, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere (UGent) , Rob WJ Collin, Robert K Koenekoop, Bart Leroy (UGent) , Norka van Moll-Ramirez, Hanka Venselaar, et al. (2013) OPHTHALMOLOGY. 120(6). p.1239-1246