Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

par Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH
Publié 2018

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

par Van de Kerkhof NW, Feenstra I, van der Heijden FM,  De Leeuw N, Pfundt R, Stöber G, Egger JI, Verhoeven WM
Publié 2012