Search Results - Johan T. den Dunnen

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  1. 1
    Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

    Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion by Johan T. den Dunnen, Stylianos E. Antonarakis

    Published 2000
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  2. 2
    Standardizing mutation nomenclature: Why bother?

    Standardizing mutation nomenclature: Why bother? by Johan T. den Dunnen, Mark H. Paalman

    Published 2003
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    Editorial
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  3. 3
    Next generation sequencing technology: Advances and applications

    Next generation sequencing technology: Advances and applications by Henk P.J. Buermans, Johan T. den Dunnen

    Published 2014
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    Revisão
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  4. 4
    Describing structural changes by extending HGVS sequence variation nomenclature

    Describing structural changes by extending HGVS sequence variation nomenclature by Peter E.M. Taschner, Johan T. den Dunnen

    Published 2011
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  5. 5
    Standard Mutation Nomenclature in Molecular Diagnostics

    Standard Mutation Nomenclature in Molecular Diagnostics by Shuji Ogino, Margaret L. Gulley, Johan T. den Dunnen, Robert B. Wilson

    Published 2007
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  6. 6
    Guidelines for establishing locus specific databases

    Guidelines for establishing locus specific databases by Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G.H. Cotton

    Published 2011
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  7. 7
    LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

    LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach by Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner

    Published 2005
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  8. 8
    High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

    High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening by Rolf H. A. M. Vossen, Emmelien Aten, Anja Roos, Johan T. den Dunnen

    Published 2009
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    Revisão
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  9. 9
    Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

    Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. by Richard Rodney Bennett, Johan T. den Dunnen, Kristine O'Brien, Basil T. Darras, Louis M. Kunkel

    Published 2001
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  10. 10
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant by Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

    Published 2021
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  11. 11
    Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans

    Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans by Paula Kersbergen, Kate van Duijn, A. Kloosterman, Johan T. den Dunnen, Manfred Kayser, Peter de Knijff

    Published 2009
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  12. 12
    Nine unknown rearrangements in 16p13.3 and 11p15.4 causing - and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

    Nine unknown rearrangements in 16p13.3 and 11p15.4 causing - and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification by Cornelis L. Harteveld, Astrid Voskamp, Marion Phylipsen, Nicole Akkermans, Johan T. den Dunnen, Stefan J. White, Paola Giordano

    Published 2005
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  13. 13
    Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

    Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling by Rolf Turk, Ellen Sterrenburg, EJ de Meijer, G-JB van Ommen, Johan T. den Dunnen, Peter A.C. ‘t Hoen

    Published 2005
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  14. 14
    New methods for next generation sequencing based microRNA expression profiling

    New methods for next generation sequencing based microRNA expression profiling by Henk P.J. Buermans, Yavuz Ariyürek, Gert‐Jan B. van Ommen, Johan T. den Dunnen, Peter A.C. ‘t Hoen

    Published 2010
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  15. 15
    The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

    The UCL low-density lipoprotein receptor gene variant database: pathogenicity update by S. E. A. Leigh, Marta Futema, Ros Whittall, Alison Taylor‐Beadling, Maggie Williams, Johan T. den Dunnen, Steve E. Humphries

    Published 2016
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  16. 16
    Mutalyzer 2: next generation HGVS nomenclature checker

    Mutalyzer 2: next generation HGVS nomenclature checker by Mihai Lefter, Jonathan K. Vis, Martijn Vermaat, Johan T. den Dunnen, Peter E.M. Taschner, Jeroen F. J. Laros

    Published 2021
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  17. 17
    The LOVD3 platform: efficient genome-wide sharing of genetic variants

    The LOVD3 platform: efficient genome-wide sharing of genetic variants by Ivo F.A.C. Fokkema, Mark Kroon, J. Hernandez, Daan Asscheman, Ivar Lugtenburg, Jerry Hoogenboom, Johan T. den Dunnen

    Published 2021
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  18. 18
    Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA

    Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA by Anastasios Mastrokolias, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Peter A.C. ‘t Hoen, Willeke M. C. van Roon‐Mom

    Published 2012
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  19. 19
    Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons

    Exploring the Frontiers of Therapeutic Exon Skipping for Duchenne Muscular Dystrophy by Double Targeting within One or Multiple Exons by Annemieke Aartsma‐Rus, Wendy E. Kaman, Rudie Weij, Johan T. den Dunnen, Gert‐Jan B. van Ommen, J.C.T. van Deutekom

    Published 2006
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  20. 20
    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

    Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses by Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Egbert Bakker, Martijn H. Breuning, Johan T. den Dunnen

    Published 2004
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