検索結果 - Kate Sergeant

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  1. 1
    Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice

    Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice 著者: Alireza Morovat, Gayani Weerasinghe, Victoria Nesbitt, Monika Hofer, Thomas Agnew, G. Quaghebeur, Kate Sergeant, Carl Fratter, Nishan Guha, Mehdi Mirzazadeh, Joanna Poulton

    出版事項 2017
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  2. 2
    Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

    Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines 著者: Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy E. Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James M. Polke, Robert W. Taylor, Carl Fratter

    出版事項 2022
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    Artigo
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  3. 3
    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy 著者: Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga, Uluç Yiş, Hoda Tomoum, Hanan E. Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Póvoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horváth, Semra Hız, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian

    出版事項 2021
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    Artigo
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  4. 4
    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability 著者: Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher M. Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Joanna Poulton, Héctor García‐Moreno, Paola Giunti, Carlos Alberto de Moura Aschoff, Jonas Alex Morales Saute, Amelia Jeanne Kirby, Camilo Toro, Lynne A. Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S. Gorman, Andrew M. Schaefer, Claes M. Gustafsson, Robert W. Taylor, Maria Falkenberg, Thomas J. Nicholls

    出版事項 2023
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    Artigo
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  5. 5
    Reevaluation of the South Asian <i>MYBPC3</i> <sup>Δ25bp</sup> Intronic Deletion in Hypertrophic Cardiomyopathy

    Reevaluation of the South Asian <i>MYBPC3</i> <sup>Δ25bp</sup> Intronic Deletion in Hypertrophic Cardiomyopathy 著者: Andrew R. Harper, Michael Bowman, Jesse B.G. Hayesmoore, Helen Sage, Silvia Salatino, Edward Blair, Carolyn Campbell, Bethany Currie, Anuj Goel, Karen McGuire, Elizabeth Ormondroyd, Kate Sergeant, Adam Waring, Jessica Woodley, Christopher M. Kramer, Stefan Neubauer, Martin Farrall, Hugh Watkins, Kate Thomson, Theodore P. Abraham, Lisa Anderson, Evan Appelbaum, Camillo Autore, Colin Berry, Elena Biagini, William Bradlow, Chiara Bucciarelli‐Ducci, Amedeo Chiribiri, Lubna Choudhury, Andrew M. Crean, Dana Dawson, Milind Y. Desai, Eleanor Elstein, Andrew Flett, Matthias G. Friedrich, Stephen B. Heitner, Adam S. Helms, Carolyn Y. Ho, Daniel Jacoby, Han Kim, Bette Kim, Éric Larose, Masliza Mahmod, Heiko Mahrholdt, Martin S. Maron, Gerry P McCann, Michelle Michaels, Saidi Mohiddin, Sherif F. Nagueh, David E. Newby, Iacopo Olivotto, Anjali Owens, François Pierre-Mongeon, Sanjay Prasad, Ornella Rimoldi, Michael Salerno, Jeanette Schulz‐Menger, Mark V. Sherrid, Peter Swoboda, Albert C. van Rossum, Jonathan W. Weinsaft, James A. White, Eric E. Williamson

    出版事項 2020
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