PIBI(D)S: clinical and molecular characterization of a new case. - Wikidata - awgldk - TriplyDB

PIBI(D)S: clinical and molecular characterization of a new case.

PIBI(D)S: clinical and molecular characterization of a new case.

http://www.wikidata.org/entity/Q30656170

about

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

P2860

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P2860

PIBI(D)S: clinical and molecular characterization of a new case.

http://www.wikidata.org/entity/Q30656170

description

2001 nî lūn-bûn

@nan

2001 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2001年の論文

@ja

2001年論文

@yue

2001年論文

@zh-hant

2001年論文

@zh-hk

2001年論文

@zh-mo

2001年論文

@zh-tw

2001年论文

@wuu

name

PIBI(D)S: clinical and molecular characterization of a new case.

@ast

PIBI(D)S: clinical and molecular characterization of a new case.

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type

label

PIBI(D)S: clinical and molecular characterization of a new case.

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PIBI(D)S: clinical and molecular characterization of a new case.

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prefLabel

PIBI(D)S: clinical and molecular characterization of a new case.

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PIBI(D)S: clinical and molecular characterization of a new case.

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P1433

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P356

J.1468-3083.2001.00212.X

P1433

Journal of the European Academy of Dermatology and Venereology

P1476

PIBI(D)S: clinical and molecular characterization of a new case.

@en

P2093

Alaibac M

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Fortina AB

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Peserico A

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Piaserico S

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P2860

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

Impaired interferon production and natural killer cell activation in patients with the skin cancer-prone disorder, xeroderma pigmentosum.

Cockayne syndrome: review of 140 cases.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.

Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.

Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

P304

65-69

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scholarly article

P356

10.1046/J.1468-3083.2001.00212.X

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P433

1

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P478

15

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P577

2001-01-01T00:00:00Z

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P5875

11890996

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P698

11451329

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