Next-generation sequencing in childhood disorders

Next-generation sequencing in childhood disorders

Εμφάνιση άλλων εκδόσεων (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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Schnekenberg, R, Németh, A
Μορφή:	Journal article
Έκδοση:	2014

Παρόμοια τεκμήρια

Next-generation sequencing in childhood disorders.
ανά: Schnekenberg, R, κ.ά.
Έκδοση: (2014)

Generation of stem cell models of ITPR1-related neurological disorders using a novel genome engineering approach
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Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
ανά: Németh, A, κ.ά.
Έκδοση: (2013)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
ανά: Németh, A, κ.ά.
Έκδοση: (2013)

Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
ανά: Kwasniewska, A, κ.ά.
Έκδοση: (2011)

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

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
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Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
ανά: Davies, W, κ.ά.
Έκδοση: (2012)

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

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
ανά: Dániel Németh, κ.ά.
Έκδοση: (2016-01-01)

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)
ανά: Shanks, M, κ.ά.
Έκδοση: (2011)

Intergenerational succession (generational change): Strategic renewal? The emergence of familiness in the business life of Dudits hotels
ανά: Németh Krisztina, κ.ά.
Έκδοση: (2017-01-01)

Visions of Childhood, Notions of Rurality, and Anti-bias Education: Emerging Educators Strive for Praxis
ανά: Emily A. Nemeth, κ.ά.
Έκδοση: (2022-07-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
ανά: Al-Khuzaei, S, κ.ά.
Έκδοση: (2021)

Editorial: From magma generation to surface processes in monogenetic volcanism
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Έκδοση: (2023-02-01)

Editorial: Novel antipsychotics within and beyond clinical trials: The treatment of overlapping psychiatric disorders with D3-D2 partial agonists
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Targeted next-generation sequencing to diagnose disorders of HDL cholesterol
ανά: Singh N. Sadananda, κ.ά.
Έκδοση: (2015-10-01)

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

Cause-Implication Diagrams for Process Systems: Their Generation, Utility and Importance
ανά: E. Nemeth, κ.ά.
Έκδοση: (2013-05-01)

The use of next-generation sequencing in movement disorders
ανά: Catharine E. Krebs, κ.ά.
Έκδοση: (2012-05-01)

Checking the identity of entities by machine algorithms: the next step to the Hungarian National Namespace
ανά: Zsolt Bánki, κ.ά.
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The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration.
ανά: Németh, A
Έκδοση: (2014)

Dominant mutations in GRM1 cause spinocerebellar ataxia type 44
ανά: Watson, L, κ.ά.
Έκδοση: (2017)

The future of diagnostics in Cerebellar Ataxias
ανά: Nemeth, A
Έκδοση: (2010)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
ανά: Shanks, M, κ.ά.
Έκδοση: (2013)

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
ανά: Shanks, M, κ.ά.
Έκδοση: (2013)

Next-generation sequencing in dermatology
ανά: Andrew D. King, κ.ά.
Έκδοση: (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
ανά: Edit Németh, κ.ά.
Έκδοση: (2018-02-01)

Utility of next-generation sequencing in the diagnosis of neurological disorders
ανά: Adnan Firdous Raina, κ.ά.
Έκδοση: (2023-01-01)

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
ανά: Shafi Mahmud, κ.ά.
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Development of Competencies for Employability Digital Competencies
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The worldwide epidemiology of salivary gland tumors
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Έκδοση: (2020-04-01)

Comprehensive translocation and clonality detection in lymphoproliferative disorders by next-generation sequencing
ανά: Dörte Wren, κ.ά.
Έκδοση: (2017-02-01)

Examining undergraduate examinations.
ανά: Ellis, S, κ.ά.
Έκδοση: (1991)

FIELD TESTS OF GLUED INSULATED RAIL JOINTS WITH USAGE OF SPECIAL PLASTIC AND STEEL FISHPLATES
ανά: A. Nemeth, κ.ά.
Έκδοση: (2019-04-01)

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

SPECIAL LABORATORY TESTING METHOD FOR EVALUATION PARTICLE BREAKAGE OF RAILWAY BALLAST MATERIAL
ανά: S. Fischer, κ.ά.
Έκδοση: (2018-04-01)

Approximation theory and imbedding problems
ανά: A.B. Németh
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