תוצאות חיפוש - Bart Charbon

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  1. 1
    The ARVD/C Genetic Variants Database: 2014 Update

    The ARVD/C Genetic Variants Database: 2014 Update מאת Elisabetta Lazzarini, Jan D.H. Jongbloed, Kalliopi Pilichou, Gaetano Thiene, Cristina Basso, Hennie Bikker, Bart Charbon, Morris A. Swertz, J. Peter van Tintelen, Paul A. van der Zwaag

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  2. 2
    SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

    SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data מאת Chao Pang, Annet Sollie, Anna Sijtsma, Dennis Hendriksen, Bart Charbon, Mark de Haan, Tommy de Boer, Fleur Kelpin, Jonathan Jetten, Joeri K. van der Velde, Nynke Smidt, Rolf H. Sijmons, Hans L. Hillege, Morris A. Swertz

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  3. 3
    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations מאת 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, Mariëlle van Gijn, Kristin M. Abbott, Birgit Sikkema‐Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, Morris A. Swertz

    יצא לאור 2020
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders מאת Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, P.M. Grootscholten, Henny H. Lemmink, Jan D.H. Jongbloed, Laura Bosscher, N. Knoers, Morris A. Swertz, Birgit Sikkema‐Raddatz, Dorieke J. Dijkstra, Lennart Johansson, Cleo C. van Diemen

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  5. 5
    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy מאת Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom Hofste, Martine van Zweeden, Ronny Derks, Nico Leijsten, Martina Ruiterkamp‐Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G.M. de Sain‐van der Velden, Els Voorhoeve, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, Birgit Sikkema‐Raddatz, Marcel Nelen

    יצא לאור 2024
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    Artigo
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  6. 6
    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data מאת Ivo F.A.C. Fokkema, Kasper Joeri van der Velde, Mariska Slofstra, Claudia Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, R. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Mariëlle van Gijn

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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