Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy - Wikidata - awgldk - TriplyDB

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

http://www.wikidata.org/entity/Q36032075

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A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Prevalence of Titin Truncating Variants in General Population.Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes A Mitochondrial DNA A8701G Mutation Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree of a Consanguineous Marriage Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.Clinical disease presentation and ECG characteristics of LMNA mutation carriers Genetics and genomics of dilated cardiomyopathy and systolic heart failure.Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases.Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Genetic Testing in Pediatric Cardiomyopathy.Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.Relevance of truncating titin mutations in dilated cardiomyopathy.Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

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Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

http://www.wikidata.org/entity/Q36032075

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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European Heart Journal

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Genetics and genotype-phenotyp ...... ts with dilated cardiomyopathy

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Hannele Koillinen

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Jonna Tallila

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Juha W Koskenvuo

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Laura Ollila

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Maija Kaartinen

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Markku S Nieminen

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Massimiliano Gentile

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Pertteli Salmenperä

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Samuel Myllykangas

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Sanna Vattulainen

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P2860

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

The failing heart

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

Atlas of the clinical genetics of human dilated cardiomyopathy

Fast and accurate long-read alignment with Burrows-Wheeler transform

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Trimmomatic: a flexible trimmer for Illumina sequence data

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

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2327-2337

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10.1093/EURHEARTJ/EHV253

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34

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Oyediran Akinrinade

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2015-06-17T00:00:00Z

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