檢索結果 - Christopher Mattocks

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    Comparison of Mendeliome exome capture kits for use in clinical diagnostics 由 Reuben J. Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis

    出版 2020-02-01
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    A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping 由 Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self

    出版 2019-09-01
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    Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B) 由 Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self

    出版 2017-06-01
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