Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
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' viewsIntegrative 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 DisordersNext generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsGenomic analysis in the clinic: benefits and challenges for health care professionals and patients in BrazilFirst Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular DystrophyIdentification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotypingThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsGenetic basis of limb-girdle muscular dystrophies: the 2014 update
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P2860
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
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.
@en
Next generation sequencing
@nl
type
label
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
@en
Next generation sequencing
@nl
prefLabel
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
@en
Next generation sequencing
@nl
P2860
P1433
P1476
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
@en
P2093
Giulio Piluso
Vincenzo Nigro
P2860
P304
P577
2012-12-01T00:00:00Z