Next generation sequencing (NGS) strategies for the genetic testing of myopathies. - Wikidata - wikimedia - TriplyDB

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

http://www.wikidata.org/entity/Q39980386

about

Emery-Dreifuss muscular dystrophy: a test case for precision medicine.Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views Integrative data mining highlights candidate genes for monogenic myopathies.De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients Genetic basis of limb-girdle muscular dystrophies: the 2014 update

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Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

http://www.wikidata.org/entity/Q39980386

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

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Next generation sequencing

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type

label

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

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Next generation sequencing

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prefLabel

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

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Next generation sequencing

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Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

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Giulio Piluso

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Vincenzo Nigro

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DNA sequencing with chain-terminating inhibitors

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

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

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Exome sequencing identifies the cause of a mendelian disorder

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Congenital myopathies: an update

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196-200

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3

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2012-12-01T00:00:00Z

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