Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

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Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

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Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

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http://www.wikidata.org/entity/Q40807811

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

Myoclonus-dystonia and Silver- ...... rental disomy of chromosome 7.

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type

Item

label

Myoclonus-dystonia and Silver- ...... rental disomy of chromosome 7.

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prefLabel

Myoclonus-dystonia and Silver- ...... rental disomy of chromosome 7.

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P1476

Myoclonus-dystonia and Silver- ...... rental disomy of chromosome 7.

@en

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A Bytyci Telegrafi

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C C Umeh

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D A S Batista

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J Bodurtha

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M B Sheridan

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T M Dawson

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V Stinnett

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Z Mari

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P2860

epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

The epsilon-sarcoglycan gene in myoclonic syndromes

Epigenotype-phenotype correlations in Silver-Russell syndrome

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Myoclonus-dystonia: significance of large SGCE deletions.

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368-372

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scholarly article

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10.1111/CGE.12075

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P478

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2013-01-20T00:00:00Z

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233913410

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23237735

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3657309

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Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

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P2860

P2860

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932