Resultados da busca - Richard J. Sinke

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  1. 1
    Mendelian Disorders of High-Density Lipoprotein Metabolism

    Mendelian Disorders of High-Density Lipoprotein Metabolism por Federico Oldoni, Richard J. Sinke, Jan Albert Kuivenhoven

    Publicado em 2014
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  2. 2
    Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

    Using the shared genetics of dystonia and ataxia to unravel their pathogenesis por Esther Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen, Dineke S. Verbeek

    Publicado em 2017
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  3. 3
    Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.

    Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart. por D. Schultz, Gábor Mikala, Atsuko Yatani, Dorothy Engle, David Iles, Bart Segers, Richard J. Sinke, D. Olde Weghuis, Udo Klöckner, Minoru Wakamori

    Publicado em 1993
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  4. 4
    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation por Gerbrig Berger, Eva van den Berg, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Richard J. Sinke, Laura Bungener, André B. Mulder, Edo Vellenga

    Publicado em 2016
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  5. 5
    Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

    Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases por Mirjam Plantinga, Erwin Birnie, Kristin M. Abbott, Richard J. Sinke, Anneke Lucassen, Juliëtte Schuurmans, Seyma Kaplan, Marian Verkerk, Adelita V. Ranchor, Irene M. van Langen

    Publicado em 2016
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  6. 6
    The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion.

    The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion. por Ruud H. Brakenhoff, Martijn Gerretsen, E.M.C. Knippels, Mariska van Dijk, Helma van Essen, D. Olde Weghuis, Richard J. Sinke, G. B. Snow, Guus AMS van Dongen

    Publicado em 1995
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  7. 7
    Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

    Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm por Martje E. van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J. Sinke, Oebele F. Brouwer, Corien C. Verschuuren‐Bemelmans, Deborah A. Sival, Marina A.J. Tijssen, Tom J. de Koning

    Publicado em 2014
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  8. 8
    Association between an agouti-related protein gene polymorphism and anorexia nervosa

    Association between an agouti-related protein gene polymorphism and anorexia nervosa por Tom Vink, Anke Hinney, Annemarie Elburg, Stephanie H.M. van Goozen, Lodewijk A. Sandkuijl, Richard J. Sinke, B-M Herpertz-Dahlmann, Johannes Hebebrand, Helmut Remschmidt, Hermán van Engeland, R.A.H. Adan

    Publicado em 2001
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  9. 9
    A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q

    A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q por S C Bakker, Emma M. van der Meulen, Jan K. Buitelaar, Lodewijk A. Sandkuijl, David L. Pauls, A.J. Monsuur, Ruben van 't Slot, Ruud B. Minderaa, W. Boudewijn Gunning, P. Pearson, Richard J. Sinke

    Publicado em 2003
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  10. 10
    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead por Abigail Veldman, Mensiena B. G. Kiewiet, M. Rebecca Heiner‐Fokkema, Marcel Nelen, Richard J. Sinke, Birgit Sikkema‐Raddatz, Els Voorhoeve, Dineke Westra, Martijn E.T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen

    Publicado em 2022
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  11. 11
    Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

    Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels por Patrick Deelen, Daria V. Zhernakova, Mark de Haan, Marijke van der Sijde, Marc Jan Bonder, Juha Karjalainen, K. Joeri van der Velde, Kristin M. Abbott, Jingyuan Fu, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz, Lude Franke

    Publicado em 2015
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  12. 12
    CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

    CoNVaDING: Single Exon Variation Detection in Targeted NGS Data por Lennart Johansson, Freerk van Dijk, Eddy N. de Boer, Krista K. van Dijk-Bos, Jan D.H. Jongbloed, Annemieke H. van der Hout, Helga Westers, Richard J. Sinke, Morris A. Swertz, Rolf H. Sijmons, Birgit Sikkema‐Raddatz

    Publicado em 2016
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  13. 13
    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

    Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics por Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer, Rowida Almomani, Ludolf G. Boven, Maarten P. van den Berg, Karin Y. van Spaendonck‐Zwarts, J. Peter van Tintelen, Rolf H. Sijmons, Jan D.H. Jongbloed, Richard J. Sinke

    Publicado em 2013
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  14. 14
    GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    GAVIN: Gene-Aware Variant INterpretation for medical sequencing por K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz

    Publicado em 2017
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  15. 15
    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics por Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes, Lamberta K Leegte, Klaas Kok, Richard J. Sinke, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2011
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  16. 16
    Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

    Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 por Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien C. Verschuuren‐Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. van de Warrenburg, Roman A. Zubarev, B. Kremer, Pamela E. Knapp, Kurt F. Hauser, Cisca Wijmenga, Fred Nyberg, Richard J. Sinke, Dineke S. Verbeek

    Publicado em 2010
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  17. 17
    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization por K. Joeri van der Velde, Joël Kuiper, Bryony A. Thompson, John‐Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan D.H. Jongbloed, Cisca Wijmenga, Tom J. de Koning, Kristin M. Abbott, Richard J. Sinke, Amanda B. Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H. Sijmons, Morris A. Swertz

    Publicado em 2015
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  18. 18
    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly por Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra‐Knol, E. Redeker, Marcel M.A.M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz

    Publicado em 2015
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  19. 19
    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 por 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

    Publicado em 2020
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  20. 20
    Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy por Karin Y. van Spaendonck‐Zwarts, Anna Pósafalvi, Maarten P. van den Berg, Denise Hilfiker‐Kleiner, Ilse A. E. Bollen, Karen Sliwa, Mariëlle Alders, Rowida Almomani, Irene M. van Langen, Peter van der Meer, Richard J. Sinke, Jolanda van der Velden, Dirk J. van Veldhuisen, J. Peter van Tintelen, Jan D.H. Jongbloed

    Publicado em 2014
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