A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
Verhoeven, Willem MA, Egger, Jos IM, Jongbloed, Rob E, Meijer van Putten, Marloes, de Bruijn-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
Published in International medical case reports journal (01.01.2020)
Published in International medical case reports journal (01.01.2020)
Get full text
Journal Article
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, Willem, Zuijdam, José, Scheick, Anneke, van Nieuwenhuijsen, Frederiek, Zwemer, Anne-Suus, Pfundt, Rolph, Egger, Jos
Published in International medical case reports journal (01.01.2022)
Published in International medical case reports journal (01.01.2022)
Get full text
Journal Article
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6AI Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient
Verhoeven, Willem, Zuijdam, Jose, Scheick, Anneke, van Nieuwenhuijsen, Frederiek, Zwemer, Anne-Suus, Pfundt, Rolph, Egger, Jos
Published in International medical case reports journal (31.12.2022)
Published in International medical case reports journal (31.12.2022)
Get full text
Journal Article
A de novo CTNNBI Novel Splice Variant in an Adult Female with Severe Intellectual Disability
Verhoeven, Willem M.A, Egger, Jos I.M, Jongbloed, Rob E, Putten, Marloes Meijer van, Zandwijk, Marieke de Bruin-van, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
Published in International medical case reports journal (31.10.2020)
Published in International medical case reports journal (31.10.2020)
Get full text
Journal Article
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
Verhoeven, Willem M A, Egger, Jos I M, Jongbloed, Rob E, van Putten, Marloes Meijer, de Bruin-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
Published in International medical case reports journal (01.01.2020)
Published in International medical case reports journal (01.01.2020)
Get full text
Report