Hasil Pencarian - James Dowling

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  1. 1
    Overwintering under ice: A novel observation for an Australian freshwater turtle

    Overwintering under ice: A novel observation for an Australian freshwater turtle oleh James Dowling, Deborah S. Bower, Eric J. Nordberg

    Diterbitkan 2024-07-01
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  2. 2
    At the heart of genetic disease: an interview with Elizabeth McNally

    At the heart of genetic disease: an interview with Elizabeth McNally oleh Elizabeth McNally, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  3. 3
    To dystrophin and beyond: an interview with Louis Kunkel

    To dystrophin and beyond: an interview with Louis Kunkel oleh Louis M. Kunkel, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  4. 4
    The use of genetically humanized animal models for personalized medicine approaches

    The use of genetically humanized animal models for personalized medicine approaches oleh Annemieke Aartsma-Rus, Maaike van Putten, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  5. 5
    Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function

    Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function oleh Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  6. 6
    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development

    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development oleh David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain

    Diterbitkan 2024-01-01
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  7. 7
    Mouse models for muscular dystrophies: an overview

    Mouse models for muscular dystrophies: an overview oleh Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  8. 8
    A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse

    A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse oleh Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  9. 9
    Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes

    Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes oleh Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  10. 10
    Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)

    Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT) oleh Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  11. 11
    Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

    Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs oleh Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  12. 12
    Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

    Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy oleh Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

    Diterbitkan 2020-02-01
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  13. 13
    P541: Development of a provincial genetics program in Ontario

    P541: Development of a provincial genetics program in Ontario oleh Kathleen Bell, Raymond Kim, Aaron Pollett, Wilson Yu, Syed Ahmed, Muna Aden, Rae Brager, June Carroll, Melissa Carter, Dervla Connaughton, James Dowling, Angela Du, Hanna Faghfoury, Harriet Feilotter, Elaine Goh, Andrea Guerin, Jennifer Hart, Ivy Haw, Rachel Healey, Richard Kim, Goran Klaric, Kaitlyn Lemay, Jerom Nguyen, Luis Peña, Erin Redwood, Julie Richer, Mary Schmitz, Julia Su, Frank Telfer

    Diterbitkan 2024-01-01
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  14. 14
    P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*

    P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* oleh Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

    Diterbitkan 2023-01-01
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