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Vansenne, Fleur, Fock, Johanna M., Stolte-Dijkstra, Irene, Meiners, Linda C., van den Boogaard, Marie Jose H., Jaeger, Bregje, Boven, Ludolf, Vos, Yvonne J., Sinke, Richard J., Verbeek, Dineke S.
Veröffentlicht in: Vansenne , F , Fock , J M , Stolte-Dijkstra , I , Meiners , L C , van den Boogaard , M J H , Jaeger , B , Boven , L , Vos , Y J , Sinke , R J & Verbeek , D S 2022 , ' Phenotypic expansion of EGP5-related Vici syndrome : 15 Dutch patients carrying a founder variant ' , European Journal of Paediatric Neurology , vol. 41 , pp. 91-98 . https://doi.org/10.1016/j.ejpn.2022.11.003;
2022
Veröffentlicht in: Vansenne , F , Fock , J M , Stolte-Dijkstra , I , Meiners , L C , van den Boogaard , M J H , Jaeger , B , Boven , L , Vos , Y J , Sinke , R J & Verbeek , D S 2022 , ' Phenotypic expansion of EGP5-related Vici syndrome : 15 Dutch patients carrying a founder variant ' , European Journal of Paediatric Neurology , vol. 41 , pp. 91-98 . https://doi.org/10.1016/j.ejpn.2022.11.003;
2022
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Vansenne, Fleur, Fock, Johanna M., Stolte-Dijkstra, Irene, Meiners, Linda C., van den Boogaard, Marie-Jose H., Jaeger, Bregje, Boven, Ludolf, Vos, Yvonne J., Sinke, Richard J., Verbeek, Dineke S.
Veröffentlicht in: European Journal of Paediatric Neurology ; volume 41, page 91-98 ; ISSN 1090-3798;
2022
Veröffentlicht in: European Journal of Paediatric Neurology ; volume 41, page 91-98 ; ISSN 1090-3798;
2022
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Ghorbani, Fatemeh, de Boer, Eddy N, Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C, Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J, Sikkema-Raddatz, Birgit, Verbeek, Dineke S, Westers, Helga, van Diemen, Cleo C
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
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Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C, Pennings, Maartje, de Boer, Eddy N, Kremer, Berry, Vanhoutte, Els K, de Vries, Jeroen J, van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C, Westers, Helga, van de Warrenburg, Bart P, Verbeek, Dineke S
Veröffentlicht in: Ghorbani , F , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Pennings , M , de Boer , E N , Kremer , B , Vanhoutte , E K , de Vries , J J , van de Berg , R , Kamsteeg , E-J , van Diemen , C C , Westers , H , van de Warrenburg , B P & Verbeek , D S 2022 , ' Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia ' , Journal of Neurology , vol. 269 , pp. 6086–6093 . https://doi.org/10.1007/s00415-022-11275-9;
2022
Veröffentlicht in: Ghorbani , F , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Pennings , M , de Boer , E N , Kremer , B , Vanhoutte , E K , de Vries , J J , van de Berg , R , Kamsteeg , E-J , van Diemen , C C , Westers , H , van de Warrenburg , B P & Verbeek , D S 2022 , ' Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia ' , Journal of Neurology , vol. 269 , pp. 6086–6093 . https://doi.org/10.1007/s00415-022-11275-9;
2022