Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

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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年學術文章

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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

@en

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

@en

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

@nl

P1476

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

@en

P2093

Anita van den Heuvel

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Chiara Cambieri

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Claudia A L Ruivenkamp

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Colleen M Donlin-Smith

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Jannine D Cody

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Judit Balog

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Julian Contet

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Kirsten R Straasheijm

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Léonard Feasson

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Marjolein Kriek

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P2860

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

Global variation in copy number in the human genome

A unifying genetic model for facioscapulohumeral muscular dystrophy

Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Facioscapulohumeral Dystrophy.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

P304

469-478

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P31

scholarly article

P356

10.1136/JMEDGENET-2017-105153

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P407

English

P433

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P478

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P50

Remko Goossens

P577

2018-03-21T00:00:00Z

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P698

29563141

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P921

risk factor

P932

6019561

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