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

<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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Үндсэн зохиолчид:	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
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	Oxford University Press 2013
Нөхцлүүд:	Neuroscience Medical sciences Neurology

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

Хэвлэсэн 2013

Journal article

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

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