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Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.

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作者单位: Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK. gareth.evans@mft.nhs.uk. [1] Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK. [2] Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK. [3] Department of Otolaryngology, Manchester Royal Infirmary, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK. [4] Salford Royal Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK. [5] Department of Neurology, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK. [6] Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK. [7] Department of Otolaryngology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. [8] Department of Neuroradiology, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK. [9] Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, London, UK. [10] Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. [11]
DOI 10.1038/s41436-018-0384-y
PMID 30523344
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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