Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
about
Achieving high-sensitivity for clinical applications using augmented exome sequencingPro-arrhythmogenic effects of CACNA1C G1911R mutation in human ventricular tachycardia: insights from cardiac multi-scale modelsCalcium Channel Mutations in Cardiac Arrhythmia SyndromesIdentification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.Sequential ionic and conformational signaling by calcium channels drives neuronal gene expression.Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivationComputational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia
P2860
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P2860
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
description
2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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name
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@ast
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@en
type
label
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@ast
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@en
prefLabel
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@ast
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@en
P2093
P2860
P356
P1433
P1476
Exome sequencing helped the fi ...... ypical Timothy syndrome (TS2).
@en
P2093
Bernd Opgen-Rhein
Claudia Langnick
Joachim C Will
Mirjam Feldkamp
Moritz Kieslich
P2860
P2888
P356
10.1186/1471-2350-15-48
P577
2014-04-29T00:00:00Z
P5875
P6179
1039220345