Next-generation sequencing in childhood disorders

Next-generation sequencing in childhood disorders

Бусад хувилбаруудыг харуулах (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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Schnekenberg, R, Németh, A
Формат:	Journal article
Хэвлэсэн:	2014

Ижил төстэй зүйлс

Next-generation sequencing in childhood disorders.
-н: Schnekenberg, R, зэрэг
Хэвлэсэн: (2014)

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

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
-н: Nemeth, A, зэрэг
Хэвлэсэн: (2012)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
-н: Németh, A, зэрэг
Хэвлэсэн: (2013)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
-н: Németh, A, зэрэг
Хэвлэсэн: (2013)

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
-н: Kwasniewska, A, зэрэг
Хэвлэсэн: (2011)

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

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
-н: Nemeth, A, зэрэг
Хэвлэсэн: (2012)

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
-н: Davies, W, зэрэг
Хэвлэсэн: (2012)

The genetics of primary dystonias and related disorders.
-н: Németh, A
Хэвлэсэн: (2002)

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
-н: Dániel Németh, зэрэг
Хэвлэсэн: (2016-01-01)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
-н: Shanks, M, зэрэг
Хэвлэсэн: (2011)

Intergenerational succession (generational change): Strategic renewal? The emergence of familiness in the business life of Dudits hotels
-н: Németh Krisztina, зэрэг
Хэвлэсэн: (2017-01-01)

Visions of Childhood, Notions of Rurality, and Anti-bias Education: Emerging Educators Strive for Praxis
-н: Emily A. Nemeth, зэрэг
Хэвлэсэн: (2022-07-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
-н: Al-Khuzaei, S, зэрэг
Хэвлэсэн: (2021)

Editorial: From magma generation to surface processes in monogenetic volcanism
-н: Stéphanie Barde-Cabusson, зэрэг
Хэвлэсэн: (2023-02-01)

Editorial: Novel antipsychotics within and beyond clinical trials: The treatment of overlapping psychiatric disorders with D3-D2 partial agonists
-н: György Németh, зэрэг
Хэвлэсэн: (2022-09-01)

A presença da (Ciência) Politica e seus conceitos nos Livros Didáticos de Sociologia no PNLD 2015
-н: Guilherme Fernando Schnekenberg, зэрэг
Хэвлэсэн: (2019-06-01)

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol
-н: Singh N. Sadananda, зэрэг
Хэвлэсэн: (2015-10-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
-н: Saoud Al-Khuzaei, зэрэг
Хэвлэсэн: (2021-04-01)

Cause-Implication Diagrams for Process Systems: Their Generation, Utility and Importance
-н: E. Nemeth, зэрэг
Хэвлэсэн: (2013-05-01)

The use of next-generation sequencing in movement disorders
-н: Catharine E. Krebs, зэрэг
Хэвлэсэн: (2012-05-01)

Checking the identity of entities by machine algorithms: the next step to the Hungarian National Namespace
-н: Zsolt Bánki, зэрэг
Хэвлэсэн: (2016-07-01)

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

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44
-н: Watson, L, зэрэг
Хэвлэсэн: (2017)

The future of diagnostics in Cerebellar Ataxias
-н: Nemeth, A
Хэвлэсэн: (2010)

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)

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)

Next-generation sequencing in dermatology
-н: Andrew D. King, зэрэг
Хэвлэсэн: (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
-н: Edit Németh, зэрэг
Хэвлэсэн: (2018-02-01)

Utility of next-generation sequencing in the diagnosis of neurological disorders
-н: Adnan Firdous Raina, зэрэг
Хэвлэсэн: (2023-01-01)

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
-н: Shafi Mahmud, зэрэг
Хэвлэсэн: (2022-02-01)

Development of Competencies for Employability Digital Competencies
-н: Eszter Németh, зэрэг
Хэвлэсэн: (2021-12-01)

The worldwide epidemiology of salivary gland tumors
-н: Viola Németh, зэрэг
Хэвлэсэн: (2020-04-01)

Comprehensive translocation and clonality detection in lymphoproliferative disorders by next-generation sequencing
-н: Dörte Wren, зэрэг
Хэвлэсэн: (2017-02-01)

Examining undergraduate examinations.
-н: Ellis, S, зэрэг
Хэвлэсэн: (1991)

FIELD TESTS OF GLUED INSULATED RAIL JOINTS WITH USAGE OF SPECIAL PLASTIC AND STEEL FISHPLATES
-н: A. Nemeth, зэрэг
Хэвлэсэн: (2019-04-01)

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

SPECIAL LABORATORY TESTING METHOD FOR EVALUATION PARTICLE BREAKAGE OF RAILWAY BALLAST MATERIAL
-н: S. Fischer, зэрэг
Хэвлэсэн: (2018-04-01)

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