A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
about
Diagnostic approaches for inherited hemolytic anemia in the genetic eraHigh throughput exome coverage of clinically relevant cardiac genes.Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichmentResearch on potential biomarkers in hereditary hemorrhagic telangiectasia.Genetic Variants Associated with Port-Wine Stains.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersAssessment of the latest NGS enrichment capture methods in clinical context.Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelGenetic biomarkers in aortopathy.Next generation sequencing and rare genetic variants: from human population studies to medical genetics.Next-generation sequencing in childhood disorders.Aortic dilation, genetic testing, and associated diagnoses.Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.Value-based genomics.
P2860
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P2860
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A direct comparison of next ge ...... inical diagnostics perspective
@ast
A direct comparison of next ge ...... inical diagnostics perspective
@en
A direct comparison of next ge ...... inical diagnostics perspective
@nl
type
label
A direct comparison of next ge ...... inical diagnostics perspective
@ast
A direct comparison of next ge ...... inical diagnostics perspective
@en
A direct comparison of next ge ...... inical diagnostics perspective
@nl
prefLabel
A direct comparison of next ge ...... inical diagnostics perspective
@ast
A direct comparison of next ge ...... inical diagnostics perspective
@en
A direct comparison of next ge ...... inical diagnostics perspective
@nl
P2093
P2860
P356
P1433
P1476
A direct comparison of next ge ...... inical diagnostics perspective
@en
P2093
Alan F Rope
Angela T Yetman
Brendan O'Fallon
Jacob D Durtschi
Larissa V Furtado
Parker Plant
Perry G Ridge
Pinar Bayrak-Toydemir
Whitney L Wooderchak-Donahue
P2860
P2888
P356
10.1186/1755-8794-5-50
P577
2012-11-14T00:00:00Z
P5875
P6179
1022267868