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

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

書誌詳細
主要な著者:	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
フォーマット:	Conference item
出版事項:	2012

類似資料

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
著者:: Kwasniewska, A, 等
出版事項: (2011)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
著者:: Németh, A, 等
出版事項: (2013)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
著者:: Németh, A, 等
出版事項: (2013)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
著者:: Shanks, M, 等
出版事項: (2011)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
著者:: Shanks, M, 等
出版事項: (2013)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
著者:: Shanks, M, 等
出版事項: (2013)

To overhaul or revolutionise IPT?
著者:: Abd Razak, Dzulkifli
出版事項: (2009)

Splicer to revolutionise textile world.
著者:: Evans, Albert, author
出版事項: (1997)

Robot revolutionises inhaler testing.
著者:: Evans, Albert, author
出版事項: (1998)

Next-generation sequencing in childhood disorders
著者:: Schnekenberg, R, 等
出版事項: (2014)

Mutations in PKC gamma in a UK family with spinocerebellar ataxia
著者:: Talbot, K, 等
出版事項: (2005)

Autosomal dominant cerebellar ataxia type III: No evidence for a large pathological CAG repeat expansion in the SCA 11 gene.
著者:: Worth, P, 等
出版事項: (1999)

Will genomics revolutionise pharmaceutical RandD?
著者:: Noble, D
出版事項: (2003)

An emerging global brain: how the Internet is revolutionising scientific research
著者:: Schroeder, R, 等
出版事項: (2009)

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
著者:: Downes, S, 等
出版事項: (2012)

The unmanned revolution: how drones are revolutionising warfare
著者:: Franke, U
出版事項: (2018)

Revolutionising portfolio management with large language model
著者:: Kee, Kai Teng
出版事項: (2024)

AI in diagnostic imaging: Revolutionising accuracy and efficiency
著者:: Mohamed Khalifa, 等
出版事項: (2024-01-01)

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44
著者:: Watson, L, 等
出版事項: (2017)

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
著者:: Nemeth, A, 等
出版事項: (2012)

Next-generation sequencing in childhood disorders.
著者:: Schnekenberg, R, 等
出版事項: (2014)

Artificial Intelligence Revolutionises Weather Forecast, Climate Monitoring and Decadal Prediction
著者:: Steven Dewitte, 等
出版事項: (2021-08-01)

The future of diagnostics in Cerebellar Ataxias
著者:: Nemeth, A
出版事項: (2010)

Revolutionising educational technology: The imperative for authentic qualitative research
著者:: Eva Heinrich
出版事項: (2024-01-01)

The Transformative Power of Virtual Hospitals for Revolutionising Healthcare Delivery
著者:: Alexandre Vallée, 等
出版事項: (2024-06-01)

Revolutionising Women's Health: A Call for Collaboration and Innovation
著者:: Abigail Craig
出版事項: (2024-02-01)

Indoor Positioning Systems Can Revolutionise Digital Lean
著者:: Tuan-Anh Tran, 等
出版事項: (2021-06-01)

How Active Inference Could Help Revolutionise Robotics
著者:: Lancelot Da Costa, 等
出版事項: (2022-03-01)

Can extended reality in the metaverse revolutionise health communication?
著者:: Adéla Plechatá, 等
出版事項: (2022-09-01)

Revolutionising classrooms with AI: Educators' insights on transformative opportunities and challenges
著者:: Geesje van den Berg
出版事項: (2024-08-01)

Beyond tithes and offerings: Revolutionising the economics of Pentecostal churches in Zimbabwe
著者:: Kimion Tagwirei
出版事項: (2022-06-01)

Could ‘<i>Isochoric Freezing</i>’ Revolutionise Food Preservation?
著者:: Kostadin Fikiin, 等
出版事項: (2024-06-01)

Revolutionised technologies for marketing: theoretical review with focus on artificial intelligence
著者:: Bahman Peyravi, 等
出版事項: (2020-12-01)

Revolutionising Heat Treatment: Novel Strategies for Augmented Performance and Sustainability
著者:: Kumar Kaushal, 等
出版事項: (2023-01-01)

Advancements in artificial intelligence and machine learning in revolutionising biomarker discovery
著者:: Gokuldas (Vedant) Sarvesh Raikar, 等
出版事項: (2023-08-01)

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.
著者:: Steckley, J, 等
出版事項: (2001)

Revolutionising textile manufacturing: a comprehensive review on 3D and 4D printing technologies
著者:: João P. Manaia, 等
出版事項: (2023-05-01)

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
著者:: Yusuf, I, 等
出版事項: (2017)

Revolutionising alcohol use disorder treatment in developing countries: integrating artificial intelligence and technology-driven approaches
著者:: Akhil P. Joseph, 等
出版事項: (2024-03-01)

Will AI-driven “Super-OODA Loops” revolutionise military strategy and operations?
著者:: Raska, Michael
出版事項: (2025)