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- Showing 1 - 14 results of 14
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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration by Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Published 2021-01-01
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The de novo FAIRification process of a registry for vascular anomalies by Karlijn H. J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna dos Santos Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A. C. ‘t Hoen, Ronald Cornet, Marco Roos, Leo Schultze Kool
Published 2021-09-01
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Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic by Núria Queralt-Rosinach, Rajaram Kaliyaperumal, César H. Bernabé, Qinqin Long, Simone A. Joosten, Henk Jan van der Wijk, Erik L.A. Flikkenschild, Kees Burger, Annika Jacobsen, Barend Mons, Marco Roos, BEAT-COVID Group, COVID-19 LUMC Group
Published 2022-04-01
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From Peer-Reviewed to Peer-Reproduced in Scholarly Publishing: The Complementary Roles of Data Models and Workflows in Bioinformatics. by Alejandra González-Beltrán, Peter Li, Jun Zhao, Maria Susana Avila-Garcia, Marco Roos, Mark Thompson, Eelke van der Horst, Rajaram Kaliyaperumal, Ruibang Luo, Tin-Lap Lee, Tak-Wah Lam, Scott C Edmunds, Susanna-Assunta Sansone, Philippe Rocca-Serra
Published 2015-01-01
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Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT by Jumamurat R. Bayjanov, Cenna Doornbos, Ozan Ozisik, Woosub Shin, Núria Queralt-Rosinach, Daphne Wijnbergen, Jean-Sébastien Saulnier-Blache, Joost P. Schanstra, Bénédicte Buffin-Meyer, Julie Klein, José M. Fernández, Rajaram Kaliyaperumal, Anaïs Baudot, Peter A. C. ’t Hoen, Friederike Ehrhart
Published 2024-09-01
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Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy by Nathalie Doorenweerd, Ahmed Mahfouz, Maaike van Putten, Rajaram Kaliyaperumal, Peter A. C. t’ Hoen, Jos G. M. Hendriksen, Annemieke M. Aartsma-Rus, Jan J. G. M. Verschuuren, Erik H. Niks, Marcel J. T. Reinders, Hermien E. Kan, Boudewijn P. F. Lelieveldt
Published 2018-03-01
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Interoperability and FAIRness through a novel combination of Web technologies by Mark D. Wilkinson, Ruben Verborgh, Luiz Olavo Bonino da Silva Santos, Tim Clark, Morris A. Swertz, Fleur D.L. Kelpin, Alasdair J.G. Gray, Erik A. Schultes, Erik M. van Mulligen, Paolo Ciccarese, Arnold Kuzniar, Anand Gavai, Mark Thompson, Rajaram Kaliyaperumal, Jerven T. Bolleman, Michel Dumontier
Published 2017-04-01
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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data by Rajaram Kaliyaperumal, Mark D. Wilkinson, Pablo Alarcón Moreno, Nirupama Benis, Ronald Cornet, Bruna dos Santos Vieira, Michel Dumontier, César Henrique Bernabé, Annika Jacobsen, Clémence M. A. Le Cornec, Mario Prieto Godoy, Núria Queralt-Rosinach, Leo J. Schultze Kool, Morris A. Swertz, Philip van Damme, K. Joeri van der Velde, Nawel Lalout, Shuxin Zhang, Marco Roos
Published 2022-03-01
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The Implicitome: A Resource for Rationalizing Gene-Disease Associations. by Kristina M Hettne, Mark Thompson, Herman H H B M van Haagen, Eelke van der Horst, Rajaram Kaliyaperumal, Eleni Mina, Zuotian Tatum, Jeroen F J Laros, Erik M van Mulligen, Martijn Schuemie, Emmelien Aten, Tong Shu Li, Richard Bruskiewich, Benjamin M Good, Andrew I Su, Jan A Kors, Johan den Dunnen, Gert-Jan B van Ommen, Marco Roos, Peter A C 't Hoen, Barend Mons, Erik A Schultes
Published 2016-01-01
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FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research by K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, XiaoFeng Liao, Sander de Ridder, Susanne Rebers, Hindrik H. D. Kerstens, Fernanda de Andrade, Jeroen van Reeuwijk, Fini E. De Gruyter, Saskia Hiltemann, Maarten Ligtvoet, Marjan M. Weiss, Hanneke W. M. van Deutekom, Anne M. L. Jansen, Andrew P. Stubbs, Lisenka E. L. M. Vissers, Jeroen F. J. Laros, Esther van Enckevort, Daphne Stemkens, Peter A. C. ‘t Hoen, Jeroen A. M. Beliën, Mariëlle E. van Gijn, Morris A. Swertz
Published 2022-04-01
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