Next-generation sequencing in neuromuscular diseases.

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NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

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Next-generation sequencing in neuromuscular diseases.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Next-generation sequencing in neuromuscular diseases.

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type

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Next-generation sequencing in neuromuscular diseases.

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Next-generation sequencing in neuromuscular diseases.

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P1476

Next-generation sequencing in neuromuscular diseases.

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P2093

Henry Houlden

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Stephanie Efthymiou

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P2860

Finding the missing heritability of complex diseases

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

Exome sequencing identifies the cause of a mendelian disorder

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Guidelines for investigating causality of sequence variants in human disease

Exome sequencing as a tool for Mendelian disease gene discovery

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Sequencing studies in human genetics: design and interpretation.

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527-536

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scholarly article

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10.1097/WCO.0000000000000374

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Andreea Manole

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2016-10-01T00:00:00Z

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27588584

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5082606

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Next-generation sequencing in neuromuscular diseases.

about

P2860

P2860

Next-generation sequencing in neuromuscular diseases.

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P1433

P1476

P2093

P2860

P304

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P356

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P50

P577

P698

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