Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Epilepsia ◽

10.1111/j.1528-1167.2012.03516.x ◽

2012 ◽

Vol 53 (8) ◽

pp. 1387-1398 ◽

Author(s):

Johannes R. Lemke ◽

Erik Riesch ◽

Tim Scheurenbrand ◽

Max Schubach ◽

Christian Wilhelm ◽

...

Keyword(s):

Next Generation Sequencing ◽

Diagnostic Tool ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted Next Generation Sequencing as Diagnostic Tool in Pediatric Cardiomyopathy

The Thoracic and Cardiovascular Surgeon ◽

10.1055/s-0033-1354433 ◽

2013 ◽

Vol 61 (S 02) ◽

Author(s):

S Waldmüller ◽

S Juncker ◽

K Imbrich ◽

P Bauer ◽

O Riess ◽

...

Keyword(s):

Next Generation Sequencing ◽

Diagnostic Tool ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Pediatric Cardiomyopathy ◽

Generation Sequencing

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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2013.08.032 ◽

2014 ◽

Vol 133 (2) ◽

pp. 529-534.e1 ◽

Author(s):

Isaac J. Nijman ◽

Joris M. van Montfrans ◽

Marlous Hoogstraat ◽

Marianne L. Boes ◽

Lisette van de Corput ◽

...

Keyword(s):

Next Generation Sequencing ◽

Diagnostic Tool ◽

Primary Immunodeficiencies ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

Neuromuscular Disorders ◽

10.1016/j.nmd.2016.06.277 ◽

2016 ◽

Vol 26 ◽

pp. S162

Author(s):

S. Lehtinen ◽

S. Penttilä ◽

T. Suominen ◽

A. Evilä ◽

M. Arumilli ◽

...

Keyword(s):

Next Generation Sequencing ◽

Diagnostic Tool ◽

Neuromuscular Disorders ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717147811.792402966 ◽

2012 ◽

Author(s):

Massimo Pandolfo ◽

Chantal Depondt

Keyword(s):

Next Generation Sequencing ◽

Diagnostic Tool ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Next Generation Sequencing ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Next Generation Sequencing ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718087053.793516496 ◽

2016 ◽

Author(s):

Bernard Corvilain

Keyword(s):

Thyroid Cancer ◽

Next Generation Sequencing ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Detection Of Mutations ◽

Generation Sequencing

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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14577 ◽

2021 ◽

Author(s):

Rui‐Jia Zhang ◽

Guang‐lin Yang ◽

Feng Cheng ◽

Feng Sun ◽

Ya Fang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Candidate Genes ◽

Congenital Hypothyroidism ◽

Mutation Screening ◽

Next Generation ◽

Thyroid Dysgenesis ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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156 Identification of novel variants associated with feline hypertrophic cardiomyopathy (HCM) using targeted next-generation sequencing

Animal - science proceedings ◽

10.1016/j.anscip.2021.03.157 ◽

2021 ◽

Vol 12 (1) ◽

pp. 126

Author(s):

Jade Raffle ◽

Jose Novo Matos ◽

Perry Elliott ◽

David Connolly ◽

Virginia Luis Fuentes ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hypertrophic Cardiomyopathy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Novel Variants ◽

Generation Sequencing

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