Showing 1 - 7 results of 7 for search 'Packham, E', query time: 0.03s
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Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. by Downes, S, Packham, E, Cranston, T, Clouston, P, Seller, A, Németh, A
Published 2012Journal article -
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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A
Published 2013Journal article -
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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A
Published 2013Journal article -
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Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS) by Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J
Published 2012Conference item -
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model by Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A
Published 2013Journal article -
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. by Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J
Published 2013Journal article