Exome analysis of a family with pleiotropic congenital heart disease.
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The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and ChallengesDevelopments in our understanding of the genetic basis of birth defectsHeart Failure in Pediatric Patients With Congenital Heart Disease.Rare de novo copy number variants in patients with congenital pulmonary atresia.Kawasaki disease patients homozygous for the rs12252-C variant of interferon-induced transmembrane protein-3 are significantly more likely to develop coronary artery lesions.Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Genome-Wide DNA Methylation Analysis and Epigenetic Variations Associated with Congenital Aortic Valve Stenosis (AVS).Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseImpact of prenatal risk factors on congenital heart disease in the current era.Family-based studies to identify genetic variants that cause congenital heart defects.Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.Impact of MYH6 variants in hypoplastic left heart syndrome.Next generation sequencing applications for cardiovascular disease.Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
P2860
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P2860
Exome analysis of a family with pleiotropic congenital heart disease.
description
2012 nî lūn-bûn
@nan
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
2012年论文
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2012年论文
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name
Exome analysis of a family with pleiotropic congenital heart disease.
@ast
Exome analysis of a family with pleiotropic congenital heart disease.
@en
type
label
Exome analysis of a family with pleiotropic congenital heart disease.
@ast
Exome analysis of a family with pleiotropic congenital heart disease.
@en
prefLabel
Exome analysis of a family with pleiotropic congenital heart disease.
@ast
Exome analysis of a family with pleiotropic congenital heart disease.
@en
P2093
P2860
P1476
Exome analysis of a family with pleiotropic congenital heart disease
@en
P2093
Brith E M Otterud
Cammon B Arrington
Douglas C Nielsen
Gabriel D Bonnell
Jeffrey Stevens
Mark F Leppert
Neil E Bowles
Norisada Matsunami
Steven B Bleyl
P2860
P304
P356
10.1161/CIRCGENETICS.111.961797
P50
P577
2012-02-15T00:00:00Z