Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

@en

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

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type

Item

label

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

@en

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

@nl

prefLabel

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

@en

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

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P1476

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

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P2093

Dana Šafka Brožková

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Jana Haberlová

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Jana Neupauerová

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Marcela Krůtová

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Pavel Dřímal

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Pavel Seeman

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Radim Mazanec

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A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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Petra Lassuthova

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2016-08-22T00:00:00Z

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