Willem M A Verhoeven (Willem Verhoeven)

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 5

Top Topics

Intellectual Disability

Top Venues

International medical case reports journal

Molecular genetics & genomic medicine

International journal of general medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Willem M A Verhoeven, Jos I M Egger, Sandra Mergler, Ton A A Meijer, Rolph Pfundt, Marjolein H Willemsen
A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype. International journal of general medicine 15 (2022)
Willem M A Verhoeven, José Zuijdam, Anneke Scheick, Frederiek van Nieuwenhuijsen, Anne-Suus Zwemer, Rolph Pfundt, Jos I M Egger
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient. International medical case reports journal 15 (2022)
Willem M A Verhoeven, José Zuijdam, Anneke Scheick, Frederiek van Nieuwenhuijsen, Anne-Suus Zwemer, Rolph Pfundt, Jos I M Egger
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient. International medical case reports journal 15 (2022)
Willem M A Verhoeven, Jos I M Egger, Rob E Jongbloed, Marloes Meijer van Putten, Marieke de Bruin-van Zandwijk, Anne-Suus Zwemer, Rolph Pfundt, Marjolein H Willemsen
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability. International medical case reports journal 13 (2020)
Willem M A Verhoeven, Jos Egger, Janneke Kipp, Jiska Verheul-Aan de Wiel, Charlotte Ockeloen, Tjitske Kleefstra, Rolph Pfundt
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? Molecular genetics & genomic medicine 7 (8) (2019)