Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

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<p>Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively paral...

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المؤلفون الرئيسيون: 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
التنسيق: Journal article
اللغة:English
منشور في: Oxford University Press 2013
الموضوعات:
Neuroscience
Medical sciences
Neurology
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