Next generation sequencing for molecular diagnosis of neuromuscular diseases. - sprookjes - yvandenbroek - TriplyDB

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

http://www.wikidata.org/entity/Q34242488

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Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered Progress and prospects of gene therapy clinical trials for the muscular dystrophies.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.VaRank: a simple and powerful tool for ranking genetic variants Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Increasing Role of Titin Mutations in Neuromuscular Disorders.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Neuromuscular disorders in zebrafish: state of the art and future perspectives.The emerging agenda of stratified medicine in neurology.A rising titan: TTN review and mutation update.Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.Validation of a next-generation sequencing assay for clinical molecular oncology.Hereditary myopathy with early respiratory failure: occurrence in various populations.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Neuropathology training worldwide-evolution and comparisons.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

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Next generation sequencing for molecular diagnosis of neuromuscular diseases.

http://www.wikidata.org/entity/Q34242488

description

2012 nî lūn-bûn

@nan

2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

@zh-hk

2012年論文

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2012年論文

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2012年论文

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name

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@ast

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@en

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@nl

type

label

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@ast

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@en

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@nl

prefLabel

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@ast

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

@en

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

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Acta Neuropathologica

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Next generation sequencing for molecular diagnosis of neuromuscular diseases

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Bernard Jost

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Frédéric Plewniak

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Jamel Chelly

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Jocelyn Laporte

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Nasim Vasli

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Rafaelle Bernard

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Serge Vicaire

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Stéphanie Le Gras

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Valérie Biancalana

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P2860

The diploid genome sequence of an individual human

The complete genome of an individual by massively parallel DNA sequencing

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Exome sequencing identifies the cause of a mendelian disorder

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Targeted capture and massively parallel sequencing of 12 human exomes

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

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