Resultados de búsqueda - Kevin Ying

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  1. 1
    Methylation-capture and Next-Generation Sequencing of free circulating DNA from human plasma

    Methylation-capture and Next-Generation Sequencing of free circulating DNA from human plasma por Kristina Warton, Vita Lin, Tina Navin, Nicola J. Armstrong, Warren Kaplan, Kevin Ying, Brian Gloss, Helena Mangs, Shalima S. Nair, Neville F. Hacker, Robert L. Sutherland, Susan J. Clark, Goli Samimi

    Publicado 2014
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  2. 2
    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy por Sushmitha Gururaj, Elizabeth E. Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee

    Publicado 2017
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  3. 3
    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders por Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli

    Publicado 2018
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  4. 4
    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness por Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo Sampaio, Alexandra Johnson, Michelle A. Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Michael F. Buckley, Marcel E. Dinger, Mark J. Cowley, Tony Roscioli, Edwin P. Kirk, Ann Bye, Rani Sachdev

    Publicado 2018
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  5. 5
    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures por Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun‐An Chen, Christian P. Schaaf, Jill A. Rosenfeld, Jessica A. Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P. Kirk, Paweł Stankiewicz, Amy M. Breman, Arran McBride, Tejaswi Kandula, Holly Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith‐Rae Dias, Megan T. Cho, Lindsay B. Henderson, Berivan Baskin, Paula Morris, Tao Jiang, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M. Boycott, J. Lloyd Holder, Huda Y. Zoghbi

    Publicado 2018
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