학술논문
'학술논문'
에서 검색결과 407건 | 목록
1~10
Academic Journal
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.
European Journal of Pediatrics. 182(6):2683-2692
Academic Journal
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.
In European Journal of Paediatric Neurology November 2022 41:91-98
Academic Journal
Zhenhua Zhang; Freerk van Dijk; Niek de Klein; Mariëlle E van Gijn; Lude H Franke; Richard J Sinke; Morris A Swertz; K Joeri van der Velde
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Academic Journal
Miaozhen Huang; Esther A. R. Nibbeling; Tjerk J. Lagrand; Ivana A. Souza; Justus L. Groen; Maria A. Gandini; Fang-Xiong Zhang; Johannes H. T. M. Koelman; Noam Adir; Richard J. Sinke; Gerald W. Zamponi; Marina A. J. Tijssen; Dineke S. Verbeek
Molecular Brain, Vol 14, Iss 1, Pp 1-4 (2021)
Electronic Resource
Olde Keizer, Richelle A.C.M.; Marouane, Abderrahim; Kerstjens-Frederikse, Wilhelmina S.; Deden, A. Chantal; Lichtenbelt, Klaske D.; Jonckers, Tinneke; Vervoorn, Marieke; Vreeburg, M.; 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, W. P.; van Zelst-Stams, W.; Frederix, Geert W.J.; Vissers, L. E.L.M.
Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , on behalf of RADICON-NL consortium , 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 , 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 .
Academic Journal
Antoine Rimbert; Hinda Daggag; Peter Lansberg; Adam Buckley; Martijn Viel; Roan Kanninga; Lennart Johansson; Robin P. F. Dullaart; Richard Sinke; Alia Al Tikriti; Jan Albert Kuivenhoven; Maha Taysir Barakat
Frontiers in Genetics, Vol 12 (2022)
Academic Journal
Shuang Li; K. Joeri van der Velde; Dick de Ridder; Aalt D. J. van Dijk; Dimitrios Soudis; Leslie R. Zwerwer; Patrick Deelen; Dennis Hendriksen; Bart Charbon; Marielle E. van Gijn; Kristin Abbott; Birgit Sikkema-Raddatz; Cleo C. van Diemen; Wilhelmina S. Kerstjens-Frederikse; Richard J. Sinke; Morris A. Swertz
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Academic Journal
Huang, Miaozhen; Nibbeling, Esther A. R.; Lagrand, Tjerk J.; Souza, Ivana A.; Groen, Justus L.; Gandini, Maria A.; Zhang, Fang-Xiong; Koelman, Johannes H. T. M.; Adir, Noam; Sinke, Richard J.; Zamponi, Gerald W.; Tijssen, Marina A. J.; Verbeek, Dineke S.
Molecular Brain. 14(1)
Academic Journal
Jeroen Bremer; Elisabeth H. van der Heijden; Daryll S. Eichhorn; Rowdy Meijer; Henny H. Lemmink; Hans Scheffer; Richard J. Sinke; Marcel F. Jonkman; Anna M.G. Pasmooij; Peter C. Van den Akker
Molecular Therapy: Nucleic Acids, Vol 18, Iss , Pp 465-475 (2019)
Academic Journal
Bremer, Jeroen; van der Heijden, Elisabeth H.; Eichhorn, Daryll S.; Meijer, Rowdy; Lemmink, Henny H.; Scheffer, Hans; Sinke, Richard J.; Jonkman, Marcel F.; Pasmooij, Anna M.G.; Van den Akker, Peter C.
In Molecular Therapy - Nucleic Acids 6 December 2019 18:465-475
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[검색어] Sinke, Richard
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