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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 2869-2884.
Author
Chen Z; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Cipriani V; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Gustavsson EK; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Ibañez K; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Genomics England, Queen Mary University of London, London EC1M 6BQ, UK.
Reynolds RH; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Zhang D; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Vestito L; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Ear Institute, University College London, London WC1X 8EE, UK.
García AC; Department of Information and Communications Engineering, University of Murcia, 30003 Murcia, Spain.
Sethi S; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Astex Pharmaceuticals, Cambridge Science Park, Cambridge, UK.
Brenton JW; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
García-Ruiz S; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Fairbrother-Browne A; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London WC2R 2LS, UK.
Gil-Martinez AL; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
Wood N; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Hardy JA; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Reta Lila Weston Institute, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; UK Dementia Research Institute, University College London, London WC1E 6BT, UK.; NIHR University College London Hospitals Biomedical Research Centre, London W1T 7DN, UK.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.
Smedley D; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Houlden H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Botía J; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Information and Communications Engineering, University of Murcia, 30003 Murcia, Spain.
Ryten M; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 1EH, UK.
DB Label
Database : MEDLINE
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