NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family

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NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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NGS-based molecular diagnosis ...... icient: an illustrative family

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NGS-based molecular diagnosis ...... icient: an illustrative family

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NGS-based molecular diagnosis ...... icient: an illustrative family

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P1476

NGS-based molecular diagnosis ...... icient: an illustrative family

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P2093

C Stubbe

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N Austin

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P Bogdanova-Mihaylova

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R Walsh

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P2860

Making the Leap from Research Laboratory to Clinic: Challenges and Opportunities for Next-Generation Sequencing in Infectious Disease Diagnostics

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

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551-552

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scholarly article

case report

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10.1093/QJMED/HCW066

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English

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109

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Sinéad Murphy

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2016-06-03T00:00:00Z

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27261485

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4986431

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