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="Willemsen, Marjolein H*" or (type exact bookEditor and editor="Willemsen, Marjolein H*") Add to list Journal Article A1 open access A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al. (2023) GENETICS IN MEDICINE. 25(4). Add to list Journal Article A1 STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy Hannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, et al. (2016) NEUROLOGY. 86(10). p.954-962