Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

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http://www.wikidata.org/entity/Q43733131
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencingNeuroacanthocytosis in china: a review of published reportsExome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines
P2860

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

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http://www.wikidata.org/entity/Q43733131
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-hans
2013年学术文章
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2013年学术文章
@zh-sg
2013年學術文章
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2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Using next-generation sequenci ...... eurologic Mendelian disorders.
@en
Using next-generation sequenci ...... eurologic Mendelian disorders.
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type
label
Using next-generation sequenci ...... eurologic Mendelian disorders.
@en
Using next-generation sequenci ...... eurologic Mendelian disorders.
@nl
prefLabel
Using next-generation sequenci ...... eurologic Mendelian disorders.
@en
Using next-generation sequenci ...... eurologic Mendelian disorders.
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Using next-generation sequenci ...... eurologic Mendelian disorders.
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P2093
P304
P31
P356
10.1016/J.NEUROBIOLAGING.2013.04.029
P433
P478
P577
P698