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="Philip, N*" or (type exact bookEditor and editor="Philip, N*") 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 open access Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome B Thienpont, F Bena, J Breckpot, N Philip, Björn Menten (UGent) , H Van Esch, E Scalais, JM Salamone, CT Fong, JL Kussmann, et al. (2010) JOURNAL OF MEDICAL GENETICS. 47(3). p.155-161