Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

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Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort.Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction.

P2860

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Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

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http://www.wikidata.org/entity/Q51069379

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh-hant

name

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@en

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@nl

type

Item

label

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@en

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@nl

prefLabel

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@en

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@nl

P1476

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

@en

P2093

Bo Ram Yoon

http://www.w3.org/2001/XMLSchema#string

Byung-Ok Choi

http://www.w3.org/2001/XMLSchema#string

Jinho Lee

http://www.w3.org/2001/XMLSchema#string

Ki Wha Chung

http://www.w3.org/2001/XMLSchema#string

Sung Min Kim

http://www.w3.org/2001/XMLSchema#string

Ye Jin Kim

http://www.w3.org/2001/XMLSchema#string

P2860

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Reliability and validity of the CMT neuropathy score as a measure of disability.

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

P2888

jhg.2014.102

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103-106

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scholarly article

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10.1038/JHG.2014.102

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2014-12-11T00:00:00Z

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25500726

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Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

about

P2860

P2860

Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698