Next-generation sequencing in childhood disorders

Next-generation sequencing in childhood disorders

Показать другие версии (1)

Genetics has been revolutionised by recent technologies. The latest addition to these advances is next-generation sequencing, which is set to transform clinical diagnostics in every branch of medicine. In the research arena this has already been instrumental in identifying hundreds of novel genetic...

Полное описание

Библиографические подробности
Главные авторы:	Schnekenberg, R, Németh, A
Формат:	Journal article
Опубликовано:	2014

Схожие документы

Next-generation sequencing in childhood disorders.
по: Schnekenberg, R, и др.
Опубликовано: (2014)

Generation of stem cell models of ITPR1-related neurological disorders using a novel genome engineering approach
по: Parolin Schnekenberg, R
Опубликовано: (2023)

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
по: Nemeth, A, и др.
Опубликовано: (2012)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
по: Németh, A, и др.
Опубликовано: (2013)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
по: Németh, A, и др.
Опубликовано: (2013)

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
по: Kwasniewska, A, и др.
Опубликовано: (2011)

COVID-19 The pandemic that never should have happened, and how to stop the next one
по: Viktor Németh
Опубликовано: (2020-09-01)

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
по: Nemeth, A, и др.
Опубликовано: (2012)

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
по: Davies, W, и др.
Опубликовано: (2012)

The genetics of primary dystonias and related disorders.
по: Németh, A
Опубликовано: (2002)

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
по: Dániel Németh, и др.
Опубликовано: (2016-01-01)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
по: Shanks, M, и др.
Опубликовано: (2011)

Intergenerational succession (generational change): Strategic renewal? The emergence of familiness in the business life of Dudits hotels
по: Németh Krisztina, и др.
Опубликовано: (2017-01-01)

Visions of Childhood, Notions of Rurality, and Anti-bias Education: Emerging Educators Strive for Praxis
по: Emily A. Nemeth, и др.
Опубликовано: (2022-07-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
по: Al-Khuzaei, S, и др.
Опубликовано: (2021)

Editorial: From magma generation to surface processes in monogenetic volcanism
по: Stéphanie Barde-Cabusson, и др.
Опубликовано: (2023-02-01)

Editorial: Novel antipsychotics within and beyond clinical trials: The treatment of overlapping psychiatric disorders with D3-D2 partial agonists
по: György Németh, и др.
Опубликовано: (2022-09-01)

A presença da (Ciência) Politica e seus conceitos nos Livros Didáticos de Sociologia no PNLD 2015
по: Guilherme Fernando Schnekenberg, и др.
Опубликовано: (2019-06-01)

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol
по: Singh N. Sadananda, и др.
Опубликовано: (2015-10-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
по: Saoud Al-Khuzaei, и др.
Опубликовано: (2021-04-01)

Cause-Implication Diagrams for Process Systems: Their Generation, Utility and Importance
по: E. Nemeth, и др.
Опубликовано: (2013-05-01)

The use of next-generation sequencing in movement disorders
по: Catharine E. Krebs, и др.
Опубликовано: (2012-05-01)

Checking the identity of entities by machine algorithms: the next step to the Hungarian National Namespace
по: Zsolt Bánki, и др.
Опубликовано: (2016-07-01)

The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration.
по: Németh, A
Опубликовано: (2014)

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44
по: Watson, L, и др.
Опубликовано: (2017)

The future of diagnostics in Cerebellar Ataxias
по: Nemeth, A
Опубликовано: (2010)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
по: Shanks, M, и др.
Опубликовано: (2013)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
по: Shanks, M, и др.
Опубликовано: (2013)

Next-generation sequencing in dermatology
по: Andrew D. King, и др.
Опубликовано: (2023-09-01)

Chloroplast Glutamine Synthetase, the Key Regulator of Nitrogen Metabolism in Wheat, Performs Its Role by Fine Regulation of Enzyme Activity via Negative Cooperativity of Its Subunits
по: Edit Németh, и др.
Опубликовано: (2018-02-01)

Utility of next-generation sequencing in the diagnosis of neurological disorders
по: Adnan Firdous Raina, и др.
Опубликовано: (2023-01-01)

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
по: Shafi Mahmud, и др.
Опубликовано: (2022-02-01)

Development of Competencies for Employability Digital Competencies
по: Eszter Németh, и др.
Опубликовано: (2021-12-01)

The worldwide epidemiology of salivary gland tumors
по: Viola Németh, и др.
Опубликовано: (2020-04-01)

Comprehensive translocation and clonality detection in lymphoproliferative disorders by next-generation sequencing
по: Dörte Wren, и др.
Опубликовано: (2017-02-01)

Examining undergraduate examinations.
по: Ellis, S, и др.
Опубликовано: (1991)

FIELD TESTS OF GLUED INSULATED RAIL JOINTS WITH USAGE OF SPECIAL PLASTIC AND STEEL FISHPLATES
по: A. Nemeth, и др.
Опубликовано: (2019-04-01)

LABORATORY TEST RESULTS OF GLUED INSULATED RAIL JOINTS ASSEMBLED WITH TRADITIONAL STEEL AND FIBRE-GLASS REINFORCED RESIN-BONDED FISHPLATES
по: A. Nemeth, и др.
Опубликовано: (2019-06-01)

SPECIAL LABORATORY TESTING METHOD FOR EVALUATION PARTICLE BREAKAGE OF RAILWAY BALLAST MATERIAL
по: S. Fischer, и др.
Опубликовано: (2018-04-01)

Approximation theory and imbedding problems
по: A.B. Németh
Опубликовано: (1973-02-01)