Clinical utility gene card for: Wolfram syndrome.

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Clinical utility gene card for: Wolfram syndrome.

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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

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2016年学术文章

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2016年學術文章

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Clinical utility gene card for: Wolfram syndrome.

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Clinical utility gene card for: Wolfram syndrome.

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Clinical utility gene card for: Wolfram syndrome.

@en

Clinical utility gene card for: Wolfram syndrome.

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Clinical utility gene card for: Wolfram syndrome.

@en

Clinical utility gene card for: Wolfram syndrome.

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P1476

Clinical utility gene card for: Wolfram syndrome.

@en

P2093

Cécile Rouzier

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Maria Bitner-Glindzicz

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Mariya Moosajee

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Richard Bowman

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P2860

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

P2888

ejhg.2016.49

P31

scholarly article

P356

10.1038/EJHG.2016.49

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P433

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P478

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P50

Patrick Yu-Wai-Man

P577

2016-05-25T00:00:00Z

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P698

27222289

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P932

5110049

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