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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
4
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
5
Duarri, Anna, Nibbeling, Esther A. R., Fokkens, Michiel R., Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C., Kremer, Berry P. H., van de Warrenburg, Bart P., Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J., Verbeek, Dineke S.
Veröffentlicht in: PLOS ONE ; volume 10, issue 3, page e0116599 ; ISSN 1932-6203;
2015
Veröffentlicht in: PLOS ONE ; volume 10, issue 3, page e0116599 ; ISSN 1932-6203;
2015
6
Sutedja, Nadia A., Sinke, Richard J., Van Vught, Paul W. J., Van der Linden, Michiel W., Wokke, John H. J., Van Duijn, Cornelia M., Njajou, Omer T., Van der Schouw, Yvonne T., Veldink, Jan H., Van den Berg, Leonard H.
Veröffentlicht in: Archives of Neurology ; volume 64, issue 1, page 63 ; ISSN 0003-9942;
2007
Veröffentlicht in: Archives of Neurology ; volume 64, issue 1, page 63 ; ISSN 0003-9942;
2007
7
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
8
Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Lekanne Deprez , R H , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Lekanne Deprez , R H , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019
9
Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, M., Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, S. J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, Wendy A.G., Frederix, Geert W.J., Vissers, Lisenka E.L.M.
Veröffentlicht in: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J & Vissers , L E L M 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
Veröffentlicht in: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J & Vissers , L E L M 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
10
Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M., Henneman, L, van Haelst, M M, Sistermans, E A, Cornel, M C, Misra-Isrie, M, Mannens, M M A M, Waisfisz, Q, van Hagen, J M, Brooks, A S, Barakat, T S, Hoefsloot, E H, van Lingen, R A, Ruivenkamp, C A L, van Haeringen, A, Koene, S, Santen, G W E, Rutten, J W, de Koning, B, Stevens, S J C, van den Wijngaard, A, Sinnema, M, Stegmann, A P A, Vreeburg, M, Vervoorn, M, Andriessen, P, Kasteel, D
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023