Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.

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Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.

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2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

@zh-cn

2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Mental retardation and early o ...... and a large Xp21-23 deletion.

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Mental retardation and early o ...... and a large Xp21-23 deletion.

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type

Item

label

Mental retardation and early o ...... and a large Xp21-23 deletion.

@en

Mental retardation and early o ...... and a large Xp21-23 deletion.

@nl

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Mental retardation and early o ...... and a large Xp21-23 deletion.

@en

Mental retardation and early o ...... and a large Xp21-23 deletion.

@nl

P1476

Mental retardation and early o ...... and a large Xp21-23 deletion.

@en

P2093

Angelo DiGiorgio

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Anna Sorge

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Anne M Connolly

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Giusi Romeo

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Raffaele Falsaperla

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Rio Bianchini

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Tatiana Trigilia

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Teresa Mattina

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P2860

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

The infant neurodevelopmental assessment: a clinical interpretive manual for CAT-CLAMS in the first two years of life, part 1.

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2.

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy.

Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers.

P304

79-81

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scholarly article

P356

10.1177/08830738030180012001

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P433

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P478

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P577

2003-01-01T00:00:00Z

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P698

12661947

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