Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. - Wikidata - wikimedia - TriplyDB

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

http://www.wikidata.org/entity/Q37591031

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

http://www.wikidata.org/entity/Q37591031

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on July 2016

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@en

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

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type

label

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@en

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@nl

prefLabel

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@en

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@nl

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J.SLSCI.2016.07.004

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Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

@en

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Daniel N Polesel

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Diego R Mazzotti

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Gustavo A Moreira

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Karen T Nozoe

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Luís F Grossklauss

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Ricardo T Akamine

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P2860

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population.

Copy number variation in the genome; the human DMD gene as an example.

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Impact of sleep in respiratory failure.

Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy.

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129-133

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scholarly article

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10.1016/J.SLSCI.2016.07.004

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3

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9

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Monica Levy Andersen

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2016-07-01T00:00:00Z

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5241604

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