A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

by Verhoeven WMA, Egger JIM, Jongbloed RE, Meijer van Putten M, de Bruin-van Zandwijk M, Zwemer AS, Pfundt R, Willemsen MH
Published 2020-10-01

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

by Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH
Published 2018-03-01

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

by Verhoeven WMA, Egger JIM, Willemsen MH, de Leijer GJM, Kleefstra T
Published 2012-04-01