Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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P1476

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

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P2093

Andrew G Engel

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Angela Gruber

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Carly Sabine Pontifex

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Eric Wieben

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Kristina Martens

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Leslie E Hamilton

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Margherita Milone

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Ross A Aleff

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Sarah Berini

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Zhiyv Niu

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P2860

An integrated map of genetic variation from 1,092 human genomes

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Myofibrillar myopathies

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

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147

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scholarly article

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10.3389/FNEUR.2018.00147

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P478

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Gerald Pfeffer

Elie Naddaf

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2018-03-19T00:00:00Z

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P698

29599744

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5868303

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