תוצאות חיפוש - Rebecca Macintosh

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  1. 1
    A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

    A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy מאת Rohit G. Saldanha, Katherine R. Balka, Sophia Davidson, Brynn Wainstein, Melanie Wong, Rebecca Macintosh, Christine Loo, Martin Weber, Vasanth Kamath, Fiona Moghaddas, Dominic De Nardo, Paul Gray, Seth L. Masters

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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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 מאת 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

    יצא לאור 2017
    קבל טקסט מלא
    Artigo
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  3. 3
    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine מאת Elizabeth E. Palmer, Jaclyn N. Hayner, Rani Sachdev, Michael Cardamone, Tejaswi Kandula, Paula Morris, Kerith‐Rae Dias, Tao Jiang, David F. Miller, Ying Zhu, Rebecca Macintosh, Marcel E. Dinger, Mark J. Cowley, Michael F. Buckley, Tony Roscioli, Ann Bye, Michael S. Kilberg, Edwin P. Kirk

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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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 מאת 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

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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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 מאת 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

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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