檢索結果 - Helen Matthews

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  1. 1
    Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS–LD)

    Health of the Nation Outcome Scales for People with Learning Disabilities (HoNOS–LD) 由 Ashok Roy, Helen Matthews, Paul Clifford, Vanessa Fowler, David M. Martin

    出版 2002
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  2. 2
    XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus

    XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus 由 Feng-Yen Li, Benjamin Chaigne-Delalande, Helen C. Su, Gülbû Uzel, Helen Matthews, Michael J. Lenardo

    出版 2014
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  3. 3
    A Viewpoint on Wearable Technology-Enabled Measurement of Wellbeing and Health-Related Quality of Life in Parkinson’s Disease

    A Viewpoint on Wearable Technology-Enabled Measurement of Wellbeing and Health-Related Quality of Life in Parkinson’s Disease 由 Janet M.T. van Uem, Tom Isaacs, Alan A. Lewin, Eros Bresolin, Dina Salkovic, Alberto J. Espay, Helen Matthews, Walter Maetzler

    出版 2016
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  4. 4
    Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

    Second messenger role for Mg2+ revealed by human T-cell immunodeficiency 由 Feng-Yen Li, Benjamin Chaigne-Delalande, Chrysi Kanellopoulou, Jeremiah C. Davis, Helen Matthews, Daniel C. Douek, Jeffrey I. Cohen, Gülbû Uzel, Helen C. Su, Michael J. Lenardo

    出版 2011
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  5. 5
    Combined Immunodeficiency Associated with<i>DOCK8</i>Mutations

    Combined Immunodeficiency Associated with<i>DOCK8</i>Mutations 由 Qian Zhang, Jeremiah C. Davis, Ian T. Lamborn, Alexandra F. Freeman, Huie Jing, Amanda J. Favreau, Helen Matthews, Joie Davis, Maria L. Turner, Gülbû Uzel, Steven M. Holland, Helen C. Su

    出版 2009
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  6. 6
    Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans

    Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans 由 Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen Matthews, Joshua McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, C. Lucas

    出版 2017
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    Carta
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  7. 7
    Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

    Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency 由 Özden Sanal, Huie Jing, Tuba Turul Özgür, Deniz Çağdaş, Dara M. Strauss‐Albee, Sibel Ersoy Evans, İlhan Tezcan, Gülten Türkkani, Helen Matthews, Göknur Haliloğlu, Aysel Yüce, Bilgehan Yalçın, Özay Özkaya, Kader Karlı Oğuz, Helen C. Su

    出版 2012
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  8. 8
    EBV-Related Lymphoproliferative Disease Complicating Therapy with the Anti-CD2 Monoclonal Antibody, Siplizumab, in Patients with T-Cell Malignancies

    EBV-Related Lymphoproliferative Disease Complicating Therapy with the Anti-CD2 Monoclonal Antibody, Siplizumab, in Patients with T-Cell Malignancies 由 Deirdre O’Mahony, John C. Morris, Maryalice Stetler‐Stevenson, Helen Matthews, Margaret R. Brown, Thomas A. Fleisher, Stefania Pittaluga, Mark Raffeld, Paul S. Albert, Dirk J. Reitsma, Karen Kaucic, Luz Hammershaimb, Thomas A. Waldmann, John E. Janik

    出版 2009
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  9. 9
    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation 由 David Buchbinder, Jeffrey R. Stinson, Diane J. Nugent, Lucie Heurtier, Felipe Suárez, Gauthaman Sukumar, Clifton L. Dalgard, Cécile Masson, Mélanie Parisot, Yu Zhang, Helen Matthews, Helen C. Su, Anne Durandy, Alain Fischer, Sven Kracker, Andrew L. Snow

    出版 2015
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  10. 10
    A systematic review of the characteristics and validity of monitoring technologies to assess Parkinson’s disease

    A systematic review of the characteristics and validity of monitoring technologies to assess Parkinson’s disease 由 Catarina Godinho, Josefa Domingos, Guilherme Cunha, A. Santos, Ricardo M. Fernandes, Daisy Abreu, Nilza Gonçalves, Helen Matthews, Tom Isaacs, Joy Duffen, Ahmed Al-Jawad, Frank Larsen, Artur Serrano, Peter Weber, Andrea Thoms, Stefan Sollinger, Holm Graeßner, Walter Maetzler, Joaquim J. Ferreira

    出版 2016
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  11. 11
    Heterozygous splice mutation in <i>PIK3R1</i> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

    Heterozygous splice mutation in <i>PIK3R1</i> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K 由 C. Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason D. Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara C. Pozos, Işıl Barlan, Ahmet Özen, V. Koneti Rao, Helen C. Su, Michael J. Lenardo

    出版 2014
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  12. 12
    Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

    Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype 由 Huie Jing, Qian Zhang, Yu Zhang, Brenna J. Hill, Christopher G. Dove, Erwin W. Gelfand, T. Prescott Atkinson, Gülbû Uzel, Helen Matthews, Peter Mustillo, David B. Lewis, Fotini D. Kavadas, I. Celine Hanson, Ashish Kumar, Raif S. Geha, Daniel C. Douek, Steven M. Holland, Alexandra F. Freeman, Helen C. Su

    出版 2014
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  13. 13
    Congenital B cell lymphocytosis explained by novel germline <i>CARD11</i> mutations

    Congenital B cell lymphocytosis explained by novel germline <i>CARD11</i> mutations 由 Andrew L. Snow, Wenming Xiao, Jeffrey R. Stinson, Wei Lü, Benjamin Chaigne-Delalande, Lixin Zheng, Stefania Pittaluga, Helen Matthews, Roland Schmitz, Sameer Jhavar, Stefan Kuchen, Lela Kardava, Wei Wang, Ian T. Lamborn, Huie Jing, Mark Raffeld, Susan Moir, Thomas A. Fleisher, Louis M. Staudt, Helen C. Su, Michael J. Lenardo

    出版 2012
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  14. 14
    DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

    DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity 由 Qian Zhang, Christopher G. Dove, Jyh Liang Hor, H. Moses Murdock, Dara M. Strauss‐Albee, Jordan Garcia, Judith N. Mandl, Rachael A. Grodick, Huie Jing, Devon Chandler‐Brown, Timothy E. Lenardo, Greg Crawford, Helen Matthews, Alexandra F. Freeman, Richard J. Cornall, Ronald N. Germain, Scott N. Mueller, Helen C. Su

    出版 2014
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  15. 15
    Mg <sup>2+</sup> Regulates Cytotoxic Functions of NK and CD8 T Cells in Chronic EBV Infection Through NKG2D

    Mg <sup>2+</sup> Regulates Cytotoxic Functions of NK and CD8 T Cells in Chronic EBV Infection Through NKG2D 由 Benjamin Chaigne-Delalande, Feng-Yen Li, Geraldine M. O’Connor, Marshall J. Lukacs, Ping Jiang, Lixin Zheng, Amber N. Shatzer, Matthew Biancalana, Stefania Pittaluga, Helen Matthews, Timothy Jancel, Jack Bleesing, Rebecca Marsh, Taco W. Kuijpers, Kim E. Nichols, C. Lucas, Sunil Nagpal, Huseyin Mehmet, Helen C. Su, Jeffrey I. Cohen, Gülbû Uzel, Michael J. Lenardo

    出版 2013
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  16. 16
    Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

    Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment 由 Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner

    出版 2014
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  17. 17
    Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

    Dual Proteolytic Pathways Govern Glycolysis and Immune Competence 由 Wei Lü, Yu Zhang, David McDonald, Huie Jing, Bernadette Carroll, Nic Robertson, Qian Zhang, Helen Griffin, Sharon Sanderson, Jeremy H. Lakey, Neil V. Morgan, Louise N. Reynard, Lixin Zheng, H. Moses Murdock, Stuart E. Turvey, Scott Hackett, Tim Prestidge, Julie M. Hall, Andrew J. Cant, Helen Matthews, M.F. Santibáñez Koref, Anna Katharina Simon, Viktor I. Korolchuk, Michael J. Lenardo, Sophie Hambleton, Helen C. Su

    出版 2014
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  18. 18
    Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

    Recurrent rhinovirus infections in a child with inherited MDA5 deficiency 由 Ian T. Lamborn, Huie Jing, Yu Zhang, Scott Drutman, Jordan K. Abbott, Shirin Munir, Sangeeta Bade, H. Moses Murdock, Celia Santos, Linda G. Brock, Evan Masutani, Emmanuel Y. Fordjour, Joshua McElwee, Jason D. Hughes, Dave P. Nichols, Aziz Belkadi, Andrew J. Oler, Corinne Savides Happel, Helen Matthews, Laurent Abel, Peter L. Collins, Kanta Subbarao, Erwin W. Gelfand, Michael J. Ciancanelli, Jean‐Laurent Casanova, Helen C. Su

    出版 2017
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  19. 19
    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance 由 Zinan Zhang, Florian Gothe, Perrine Pennamen, John R. James, David McDonald, Carlos P. Mata, Yorgo Modis, Anas M. Alazami, Meghan Acres, Wolfram Haller, Claire Bowen, Rainer Döffinger, Jan Sinclair, Shannon Brothers, Yu Zhang, Helen Matthews, Sophie Naudion, Fanny Pelluard, Huda Alajlan, Yasuhiro Yamazaki, Luigi D. Notarangelo, James Thaventhiran, Karin R. Engelhardt, Hamoud Al‐Mousa, Sophie Hambleton, Caroline Rooryck, Kenneth G. C. Smith, Michael J. Lenardo

    出版 2019
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  20. 20
    GDNF and Parkinson’s Disease: Where Next? A Summary from a Recent Workshop

    GDNF and Parkinson’s Disease: Where Next? A Summary from a Recent Workshop 由 Roger A. Barker, Anders Björklund, Don M. Gash, Alan Whone, Amber D. Van Laar, Jeffrey H. Kordower, Krystof S. Bankiewicz, Karl Kieburtz, Märt Saarma, Sigrid Booms, Henri J. Huttunen, Adrian P. Kells, Massimo S. Fiandaca, A. Jon Stoessl, David Eidelberg, Howard J. Federoff, Merja H. Voutilainen, David T. Dexter, Jamie L. Eberling, Patrik Brundin, Lyndsey Isaacs, Leah Mursaleen, Eros Bresolin, Camille Carroll, Alasdair Coles, Brian Fiske, Helen Matthews, Codrin Lungu, Richard Wyse, Simon Stott, Anthony E. Lang

    出版 2020
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