Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. - Wikidata - wikimedia - TriplyDB

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

http://www.wikidata.org/entity/Q34551175

about

Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish ClinQC: a tool for quality control and cleaning of Sanger and NGS data in clinical research.Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome Diagnostics of primary immunodeficiency diseases: a sequencing capture approach Target enrichment using parallel nanoliter quantitative PCR amplification.Application of a target enrichment-based next-generation sequencing protocol for identification and sequence-based prediction of pneumococcal serotypes Implementation of Cloud based next generation sequencing data analysis in a clinical laboratory.Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Disease-targeted sequencing: a cornerstone in the clinic Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.A systematic approach to assessing the clinical significance of genetic variants.Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.Molecular diagnosis of Duchenne muscular dystrophy.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin.Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

http://www.wikidata.org/entity/Q34551175

description

2013 nî lūn-bûn

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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2013 թվականի հունվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Comprehensive mutation analysi ...... t-generation sequencing panel.

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Anne Rutkowski

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C Alexander Valencia

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Carsten Bonnemann

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

Sequencing technologies - the next generation

Next-generation sequencing: from basic research to diagnostics

Multiplex amplification of large sets of human exons

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

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