1
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
2
Alimohamed, Mohamed Z, Johansson, LennartF, Posafalvi, Anna, Boven, Ludolf G, van Dijk, Krista K, Walters, Lisa, Vos, Yvonne J, Westers, Helga, Hoedemaekers, Yvonne M, Sinke, Richard J, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Jongbloed, Jan D H, van der Zwaag, Paul A
Veröffentlicht in: Alimohamed , M Z , Johansson , L , Posafalvi , A , Boven , L G , van Dijk , K K , Walters , L , Vos , Y J , Westers , H , Hoedemaekers , Y M , Sinke , R J , Sijmons , R H , Sikkema-Raddatz , B , Jongbloed , J D H & van der Zwaag , P A 2021 , ' Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients ' , International Journal of Cardiology , vol. 332 , pp. 99-104 . https://doi.org/10.1016/j.ijcard.2021.02.069;
2021
Veröffentlicht in: Alimohamed , M Z , Johansson , L , Posafalvi , A , Boven , L G , van Dijk , K K , Walters , L , Vos , Y J , Westers , H , Hoedemaekers , Y M , Sinke , R J , Sijmons , R H , Sikkema-Raddatz , B , Jongbloed , J D H & van der Zwaag , P A 2021 , ' Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients ' , International Journal of Cardiology , vol. 332 , pp. 99-104 . https://doi.org/10.1016/j.ijcard.2021.02.069;
2021
3
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