Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
about
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden DeathMutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.The genetic landscape of cardiomyopathy and its role in heart failure.Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.FLNC Gene Splice Mutations Cause Dilated CardiomyopathyHigh proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?Hypertrophic Cardiomyopathy Gene Testing: Go Big?Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@ast
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@en
type
label
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@ast
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@en
prefLabel
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@ast
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@en
P2093
P2860
P1476
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
@en
P2093
Elizabeth M McNally
Jessica R Golbus
Lisa Dellefave-Castillo
Lorenzo L Pesce
Megan J Puckelwartz
Peter Pytel
Viswateja Nelakuditi
P2860
P304
P356
10.1161/CIRCGENETICS.113.000578
P577
2014-09-01T00:00:00Z