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...
Үндсэн зохиолчид: | 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 |
---|---|
Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
2013
|
Ижил төстэй зүйлс
Ижил төстэй зүйлс
-
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
-н: Németh, A, зэрэг
Хэвлэсэн: (2013) -
Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
-н: Nemeth, A, зэрэг
Хэвлэсэн: (2012) -
Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
-н: Kwasniewska, A, зэрэг
Хэвлэсэн: (2011) -
Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
-н: Shanks, M, зэрэг
Хэвлэсэн: (2011) -
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
-н: Shanks, M, зэрэг
Хэвлэсэн: (2013)