Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)

Bibliografiske detaljer
Main Authors:	Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J
Format:	Conference item
Udgivet:	2012

Lignende værker

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
af: Kwasniewska, A, et al.
Udgivet: (2011)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
af: Németh, A, et al.
Udgivet: (2013)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
af: Németh, A, et al.
Udgivet: (2013)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
af: Shanks, M, et al.
Udgivet: (2011)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
af: Shanks, M, et al.
Udgivet: (2013)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
af: Shanks, M, et al.
Udgivet: (2013)

To overhaul or revolutionise IPT?
af: Abd Razak, Dzulkifli
Udgivet: (2009)

Splicer to revolutionise textile world.
af: Evans, Albert, author
Udgivet: (1997)

Robot revolutionises inhaler testing.
af: Evans, Albert, author
Udgivet: (1998)

Next-generation sequencing in childhood disorders
af: Schnekenberg, R, et al.
Udgivet: (2014)

Mutations in PKC gamma in a UK family with spinocerebellar ataxia
af: Talbot, K, et al.
Udgivet: (2005)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
af: Worth, P, et al.
Udgivet: (1999)

Will genomics revolutionise pharmaceutical RandD?
af: Noble, D
Udgivet: (2003)

An emerging global brain: how the Internet is revolutionising scientific research
af: Schroeder, R, et al.
Udgivet: (2009)

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
af: Downes, S, et al.
Udgivet: (2012)

The unmanned revolution: how drones are revolutionising warfare
af: Franke, U
Udgivet: (2018)

Revolutionising portfolio management with large language model
af: Kee, Kai Teng
Udgivet: (2024)

AI in diagnostic imaging: Revolutionising accuracy and efficiency
af: Mohamed Khalifa, et al.
Udgivet: (2024-01-01)

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44
af: Watson, L, et al.
Udgivet: (2017)

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
af: Nemeth, A, et al.
Udgivet: (2012)

Next-generation sequencing in childhood disorders.
af: Schnekenberg, R, et al.
Udgivet: (2014)

Artificial Intelligence Revolutionises Weather Forecast, Climate Monitoring and Decadal Prediction
af: Steven Dewitte, et al.
Udgivet: (2021-08-01)

The future of diagnostics in Cerebellar Ataxias
af: Nemeth, A
Udgivet: (2010)

Revolutionising educational technology: The imperative for authentic qualitative research
af: Eva Heinrich
Udgivet: (2024-01-01)

The Transformative Power of Virtual Hospitals for Revolutionising Healthcare Delivery
af: Alexandre Vallée, et al.
Udgivet: (2024-06-01)

Revolutionising Women's Health: A Call for Collaboration and Innovation
af: Abigail Craig
Udgivet: (2024-02-01)

Indoor Positioning Systems Can Revolutionise Digital Lean
af: Tuan-Anh Tran, et al.
Udgivet: (2021-06-01)

How Active Inference Could Help Revolutionise Robotics
af: Lancelot Da Costa, et al.
Udgivet: (2022-03-01)

Can extended reality in the metaverse revolutionise health communication?
af: Adéla Plechatá, et al.
Udgivet: (2022-09-01)

Revolutionising classrooms with AI: Educators' insights on transformative opportunities and challenges
af: Geesje van den Berg
Udgivet: (2024-08-01)

Beyond tithes and offerings: Revolutionising the economics of Pentecostal churches in Zimbabwe
af: Kimion Tagwirei
Udgivet: (2022-06-01)

Could ‘<i>Isochoric Freezing</i>’ Revolutionise Food Preservation?
af: Kostadin Fikiin, et al.
Udgivet: (2024-06-01)

Revolutionised technologies for marketing: theoretical review with focus on artificial intelligence
af: Bahman Peyravi, et al.
Udgivet: (2020-12-01)

Revolutionising Heat Treatment: Novel Strategies for Augmented Performance and Sustainability
af: Kumar Kaushal, et al.
Udgivet: (2023-01-01)

Advancements in artificial intelligence and machine learning in revolutionising biomarker discovery
af: Gokuldas (Vedant) Sarvesh Raikar, et al.
Udgivet: (2023-08-01)

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
af: Steckley, J, et al.
Udgivet: (2001)

Revolutionising textile manufacturing: a comprehensive review on 3D and 4D printing technologies
af: João P. Manaia, et al.
Udgivet: (2023-05-01)

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
af: Yusuf, I, et al.
Udgivet: (2017)

Revolutionising alcohol use disorder treatment in developing countries: integrating artificial intelligence and technology-driven approaches
af: Akhil P. Joseph, et al.
Udgivet: (2024-03-01)

Will AI-driven “Super-OODA Loops” revolutionise military strategy and operations?
af: Raska, Michael
Udgivet: (2025)