Resultats de la cerca - Rachel L. Robinson

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  1. 1
    The role of CACNA1Sin predisposition to malignant hyperthermia

    The role of CACNA1Sin predisposition to malignant hyperthermia per Danielle Carpenter, Christopher Ringrose, Vincenzo Leo, Andrew P. Morris, Rachel L. Robinson, P.J. Halsall, Philip M. Hopkins, Marie‐Anne Shaw

    Publicat 2009
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  2. 2
    RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

    RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes per Rachel L. Robinson, Collin Brooks, Sarah L. Brown, F.R. ELLIS, P.J. Halsall, Rupert J. Quinnell, Marie‐Anne Shaw, Philip M. Hopkins

    Publicat 2002
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  3. 3
    Genetic variation in RYR1 and malignant hyperthermia phenotypes

    Genetic variation in RYR1 and malignant hyperthermia phenotypes per Danielle Carpenter, Rachel L. Robinson, Rupert J. Quinnell, Christopher Ringrose, Marion C. Hogg, F. Casson, Patrick Booms, David Iles, P.J. Halsall, Derek S. Steele, Marie Shaw, Philip M. Hopkins

    Publicat 2009
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  4. 4
    Genetic epidemiology of malignant hyperthermia in the UK

    Genetic epidemiology of malignant hyperthermia in the UK per Dorota Miller, C.L. Daly, E.M. Aboelsaod, Lois Gardner, S.J. Hobson, K. Riasat, Sarah Shepherd, Rachel L. Robinson, Jonathan G. Bilmen, Pawan Gupta, M.‐A. Shaw, Philip M. Hopkins

    Publicat 2018
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  5. 5
    A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

    A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees per Rachel L. Robinson, Nicole Monnier, Werner Wolz, Martin Jung, André Reis, Gudrun Nuernberg, Julie Curran, Koenraad G. Monsieurs, P Stieglitz, Luc Heytens, Ruth Fricker, Christine Van Broeckhoven, Thomas Deufel, Philip M. Hopkins, Joël Lunardi, Clemens R. Mueller

    Publicat 1997
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  6. 6
    Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for <i>RYR1</i>-related malignant hyperthermia susceptibility

    Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for <i>RYR1</i>-related malignant hyperthermia susceptibility per Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Philip M. Hopkins, Natalia Kraeva, Ognoon Mungunsukh, K. Bailey Radenbaugh, Sheila Riazi, Rachel L. Robinson, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn M. Stowell, James L. Weber, Seeley Yoo, Henry Rosenberg, Leslie G. Biesecker

    Publicat 2022
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  7. 7
    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? per Rachel L. Robinson, Martin Anetseder, Virginia Brancadoro, C van Broekhoven, Antonella Carsana, K. Censier, Giuliana Fortunato, Thierry Girard, Luc Heytens, Philip M. Hopkins, Karin Jurkat‐Rott, W Klinger, G. Kozak‐Ribbens, R Krivosic, Nicole Monnier, Y. Nivoche, D Olthoff, Henrik Rueffert, Vincenzo Sorrentino, Vincenzo Tegazzin, C R Mueller

    Publicat 2003
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