Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
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The importance of genetic diagnosis for Duchenne muscular dystrophyDuchenne Muscular Dystrophy: From Diagnosis to TherapyA comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East ChinaNext-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis.Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).CUGC for Duchenne muscular dystrophy (DMD).Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.Molecular diagnosis of Duchenne muscular dystrophy.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.Clinical Utility Gene Card for: Becker muscular dystrophy.
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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Targeted next-generation seque ...... i-population diagnostic study.
@en
Targeted next-generation seque ...... i-population diagnostic study.
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type
label
Targeted next-generation seque ...... i-population diagnostic study.
@en
Targeted next-generation seque ...... i-population diagnostic study.
@nl
prefLabel
Targeted next-generation seque ...... i-population diagnostic study.
@en
Targeted next-generation seque ...... i-population diagnostic study.
@nl
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Targeted next-generation seque ...... i-population diagnostic study.
@en
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Cheng Shen
Fengxia Yao
Guanghui Yang
Hanlin Zhou
Jinming Wang
Liying Cui
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P2888
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P356
10.1038/EJHG.2013.82
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2013-06-12T00:00:00Z