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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Príomhchruthaitheoirí: 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
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: Oxford University Press 2013
Ábhair:
Neuroscience
Medical sciences
Neurology

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