Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
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 parallel, next...
Κύριοι συγγραφείς: | 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 |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2013
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
ανά: Németh, A, κ.ά.
Έκδοση: (2013) -
Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
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Έκδοση: (2012) -
Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
ανά: Kwasniewska, A, κ.ά.
Έκδοση: (2011) -
Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
ανά: Shanks, M, κ.ά.
Έκδοση: (2011) -
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
ανά: Shanks, M, κ.ά.
Έκδοση: (2013)