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
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
3
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
4
5
Nedeljkovic, Ivana, Terzikhan, Natalie, Vonk, Judith M., van der Plaat, Diana A., Lahousse, Lies, van Diemen, Cleo C., Hobbs, Brian D., Qiao, Dandi, Cho, Michael H., Brusselle, Guy G., Postma, Dirkje S., Boezen, H. M., van Duijn, Cornelia M., Amin, Najaf
Veröffentlicht in: Nedeljkovic , I , Terzikhan , N , Vonk , J M , van der Plaat , D A , Lahousse , L , van Diemen , C C , Hobbs , B D , Qiao , D , Cho , M H , Brusselle , G G , Postma , D S , Boezen , H M , van Duijn , C M & Amin , N 2018 , ' A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants ' , Frontiers in Genetics , vol. 9 , 133 . https://doi.org/10.3389/fgene.2018.00133;
2018
Veröffentlicht in: Nedeljkovic , I , Terzikhan , N , Vonk , J M , van der Plaat , D A , Lahousse , L , van Diemen , C C , Hobbs , B D , Qiao , D , Cho , M H , Brusselle , G G , Postma , D S , Boezen , H M , van Duijn , C M & Amin , N 2018 , ' A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants ' , Frontiers in Genetics , vol. 9 , 133 . https://doi.org/10.3389/fgene.2018.00133;
2018
6
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
7
Visschedijk, Marijn C., Alberts, Rudi, Mucha, Soren, Deelen, Patrick, de Jong, Dirk J., Pierik, Marieke, Spekhorst, Lieke M., Imhann, Floris, van der Meulen-de Jong, Andrea E., van der Woude, C. Janneke, van Bodegraven, Adriaan A., Oldenburg, Bas, Lowenberg, Mark, Dijkstra, Gerard, Ellinghaus, David, Schreiber, Stefan, Wijmenga, Cisca, Rivas, Manuel A., Franke, Andre, van Diemen, Cleo C., Weersma, Rinse K.
Veröffentlicht in: Visschedijk , M C , Alberts , R , Mucha , S , Deelen , P , de Jong , D J , Pierik , M , Spekhorst , L M , Imhann , F , van der Meulen-de Jong , A E , van der Woude , C J , van Bodegraven , A A , Oldenburg , B , Lowenberg , M , Dijkstra , G , Ellinghaus , D , Schreiber , S , Wijmenga , C , Rivas , M A , Franke , A , van Diemen , C C , Weersma , R K & Dutch Initiative on Crohn and Colitis 2016 , ' Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2 ' , PLoS ONE , vol. 11 , no. 8 , e0159609 . https://doi.org/10.1371/journal.pone.0159609;
2016
Veröffentlicht in: Visschedijk , M C , Alberts , R , Mucha , S , Deelen , P , de Jong , D J , Pierik , M , Spekhorst , L M , Imhann , F , van der Meulen-de Jong , A E , van der Woude , C J , van Bodegraven , A A , Oldenburg , B , Lowenberg , M , Dijkstra , G , Ellinghaus , D , Schreiber , S , Wijmenga , C , Rivas , M A , Franke , A , van Diemen , C C , Weersma , R K & Dutch Initiative on Crohn and Colitis 2016 , ' Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2 ' , PLoS ONE , vol. 11 , no. 8 , e0159609 . https://doi.org/10.1371/journal.pone.0159609;
2016