[Practical aspects of molecular diagnostics in genodermatoses].

about

A multistep approach to the diagnosis of rare genodermatoses.Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen.

P2860

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P2860

[Practical aspects of molecular diagnostics in genodermatoses].

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http://www.wikidata.org/entity/Q53294620

description

2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

[Practical aspects of molecular diagnostics in genodermatoses].

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[Practical aspects of molecular diagnostics in genodermatoses].

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type

Item

label

[Practical aspects of molecular diagnostics in genodermatoses].

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[Practical aspects of molecular diagnostics in genodermatoses].

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prefLabel

[Practical aspects of molecular diagnostics in genodermatoses].

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[Practical aspects of molecular diagnostics in genodermatoses].

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P1476

[Practical aspects of molecular diagnostics in genodermatoses].

@en

P2093

Y He

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P2860

Next generation diagnostics of heritable connective tissue disorders

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

A current and online genodermatosis database.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Immunofluorescence mapping for the diagnosis of epidermolysis bullosa.

P2888

s00105-015-3721-y

P304

53-58

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scholarly article

P356

10.1007/S00105-015-3721-Y

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P407

Af-Jarmal

P433

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

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

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Cristina Has

P577

2016-01-01T00:00:00Z

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P698

26537890

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[Practical aspects of molecular diagnostics in genodermatoses].

about

P2860

P2860

[Practical aspects of molecular diagnostics in genodermatoses].

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698