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Papers published by Dr Rolph Pfundt:

Original Research

Neuropsychiatric Disease and Treatment

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

Verhoeven W, Zuijdam J, Scheick A, van Nieuwenhuijsen F, Zwemer AS, Pfundt R, Egger J

International Medical Case Reports Journal 2022, 15:753-759

Published Date: 23 December 2022

Case report

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype

Verhoeven WMA, Egger JIM, Mergler S, Meijer TAA, Pfundt R, Willemsen MH

International Journal of General Medicine 2022, 15:2799-2806

Published Date: 10 March 2022

Case report

Neuropsychiatric Disease and Treatment

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

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

International Medical Case Reports Journal 2020, 13:487-492

Published Date: 7 October 2020

Case report

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

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

Neuropsychiatric Disease and Treatment 2018, 14:867-870

Published Date: 27 March 2018