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
Γλώσσα:	English
Έκδοση:	2014

Παρόμοια τεκμήρια

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

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)

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
ανά: Nemeth, A, κ.ά.
Έκδοση: (2012)

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

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol
ανά: Singh N. Sadananda, κ.ά.
Έκδοση: (2015-10-01)

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.
Έκδοση: (2022-02-01)

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

Next generation sequencing
ανά: Elsbeth Bösl, κ.ά.
Έκδοση: (2021-07-01)

The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders
ανά: Katalin Komlosi MD, PhD, κ.ά.
Έκδοση: (2016-10-01)

Next-generation sequencing in dermatology
ανά: Andrew D. King, κ.ά.
Έκδοση: (2023-09-01)

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

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

Next generation sequencing technologies for next generation plant breeding
ανά: SOHAM eRAY, κ.ά.
Έκδοση: (2014-07-01)

Turning Next Generation Sequencing into Now Generation Sequencing
ανά: Sara Walker, κ.ά.
Έκδοση: (2023-01-01)

Next-Generation Sequencing to Elucidate the Semen Microbiome in Male Reproductive Disorders
ανά: Rhianna Davies, κ.ά.
Έκδοση: (2023-12-01)

Organoid Models and Next-Generation Sequencing for Bone Marrow and Related Disorders
ανά: Magdalena Rausch, κ.ά.
Έκδοση: (2023-07-01)

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
ανά: María Isabel Álvarez-Mora, κ.ά.
Έκδοση: (2022-02-01)

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

Next-generation Sequencing for Lung Cancer
ανά: Kehua Wu, κ.ά.
Έκδοση: (2014-01-01)

Next‐Generation Sequencing: An Advanced Diagnostic Tool for Detection of Pancreatic Disease/Disorder
ανά: Suvro Biswas, κ.ά.
Έκδοση: (2024-11-01)

Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders
ανά: Yoko Kuroki, κ.ά.
Έκδοση: (2024-06-01)

Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing
ανά: Lianhua Sun, κ.ά.
Έκδοση: (2022-12-01)

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

Next Generation Sequencing (NGS) in healthcare delivery: lessons from the functional analysis of rhodopsin
ανά: Nemeth, A, κ.ά.
Έκδοση: (2012)

Next step of molecular pathology: next-generation sequencing in cytology
ανά: Ricella Souza da Silva, κ.ά.
Έκδοση: (2024-11-01)

Next-generation sequencing in thyroid cancer
ανά: Yoon Jin Cha, κ.ά.
Έκδοση: (2016-11-01)

Probiotics in the next-generation sequencing era
ανά: Jotham Suez, κ.ά.
Έκδοση: (2020-01-01)

Is Next-Generation Sequencing Appropriate for the Clinic?
ανά: Ramzi Hassouneh
Έκδοση: (2014-11-01)

Next-Generation Sequencing of Mycobacterium tuberculosis
ανά: Igor Mokrousov, κ.ά.
Έκδοση: (2016-06-01)

Short barcodes for next generation sequencing.
ανά: Katharina Mir, κ.ά.
Έκδοση: (2013-01-01)

Next-generation sequencing at Merck-Boston
ανά: Stevens Richard
Έκδοση: (2012-10-01)

Next-Generation Sequencing and its Applications
ανά: Meysam Mosallayi, κ.ά.
Έκδοση: (2016-03-01)

CHARACTERIZATION OF ENTEROVIRUSES BY NEXT-GENERATION SEQUENCING
ανά: M. Bessaud, κ.ά.
Έκδοση: (2018-12-01)

High-Throughput Microdissection for Next-Generation Sequencing.
ανά: Avi Z Rosenberg, κ.ά.
Έκδοση: (2016-01-01)

Genome Walking by Next Generation Sequencing Approaches
ανά: Luigi R. Ceci, κ.ά.
Έκδοση: (2012-10-01)

Next Generation Sequencing: A Tool for This Generation of Nephrologists
ανά: Lea Landolt, κ.ά.
Έκδοση: (2016-04-01)

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
ανά: L A Hughes, κ.ά.
Έκδοση: (2019-02-01)

Commentary on "Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders"
ανά: Won Kyoung Cho
Έκδοση: (2024-06-01)