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="Wakeling, Emma" or (type any "bookEditor journalEditor issueEditor" and editor="Wakeling,... Add to list Journal Article A1 Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings Charlotte Pickwick, Bert Callewaert (UGent) , Fleur van Dijk, Juliette Harris, Emma Wakeling, Eleanor Hay, Mildrid Yeo, Anupam Chakrapani, Julia Baptista, Sandra Moore, et al. (2022) CLINICAL DYSMORPHOLOGY. 31(2). p.66-70 Add to list Journal Article A1 open access SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al. (2022) GENETICS IN MEDICINE. 24(6). p.1261-1273 Add to list Journal Article A1 A clinical scoring system for congenital contractural arachnodactyly Ilse Meerschaut (UGent) , Shana De Coninck, Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al. (2020) GENETICS IN MEDICINE. 22(1). p.124-131