Article

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes

2015-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4948fe16-839f-5972-aaea-8dbc9be60a11
DOI: 10.1186/1546-0096-13-s1-o24
PMCID: PMC4596991

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypesDOI 10.1186/1546-0096-13-s1-o24Read

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center studySemantic proximity Read

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseasesSemantic proximity Read

Current and future advances in genetic testing in systemic autoinflammatory diseases.Semantic proximity Read

Genetic testing in autoinflammatory diseases – past, current and future perspectivesSemantic proximity Read

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 yearsSemantic proximity Read

Decoding variants of uncertain significance in systemic autoinflammatory diseases.Semantic proximity Read

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.Semantic proximity Read

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Semantic proximity Read

[The Cutting-edge of Medicine: Hereditary autoinflammatory diseases: diagnosis and management].Semantic proximity Read

Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.Semantic proximity Read

Somatic mutations in autoinflammatory and autoimmune disease.Semantic proximity Read