Hasil Pencarian - Kathryn Selby

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  1. 1
    Effects of Bisphosphonate Therapy on Bone Mineral Density in Boys with Duchenne Muscular Dystrophy

    Effects of Bisphosphonate Therapy on Bone Mineral Density in Boys with Duchenne Muscular Dystrophy oleh Rebecca Ronsley, Nazrul Islam, Mehima Kang, Helen Nadel, Christopher Reilly, Daniel Metzger, Kathryn Selby, Constadina Panagiotopoulos

    Diterbitkan 2020-12-01
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  2. 2
    De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

    De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy oleh Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

    Diterbitkan 2019-10-01
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  3. 3
    Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

    Abnormal fatty acid metabolism is a core component of spinal muscular atrophy oleh Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman Chardon, Hugh J. McMillan, Yu‐Ting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Melissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary

    Diterbitkan 2019-08-01
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  4. 4
    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

    Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy oleh Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Tanya N. Nelson, Corneliu Bolbocean, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

    Diterbitkan 2019-05-01
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  5. 5
    Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

    Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study oleh Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

    Diterbitkan 2022-07-01
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