Schimke immuno-osseous dysplasia: a clinicopathological correlation - Wikidata - awgldk - TriplyDB

Schimke immuno-osseous dysplasia: a clinicopathological correlation

Schimke immuno-osseous dysplasia: a clinicopathological correlation

http://www.wikidata.org/entity/Q24647873

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Identification of SMARCAL1 as a component of the DNA damage response.Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Dental abnormalities in Schimke immuno-osseous dysplasia.Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Gene clusters, molecular evolution and disease: a speculation.Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Primary immunodeficiency diseases associated with neurologic manifestations.Molecular and genetic basis of inherited nephrotic syndrome Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.Neurological Manifestations of Primary Immunodeficiency Diseases.Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia.SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.Neurological Manifestations of Primary Immunodeficiencies

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

http://www.wikidata.org/entity/Q24647873

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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name

Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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type

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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JMG.2006.044313

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Journal of Medical Genetics

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Schimke immuno-osseous dysplasia: a clinicopathological correlation

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A F Safo Do

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Akira Hori

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Barbara C Antalfy

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Behzad Najafian

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Corndins F Boerkoel

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Dawna L Armstrong

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J Marietta Clewing

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Karen SantaCruz

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Katja M Marwedel

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Lydia Najera

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P2860

Longevity in Schimke immuno-osseous dysplasia

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features

Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse

A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements.

CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.

Schimke immuno-osseous dysplasia: case report and review.

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Syndromes associated with immunodeficiency.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

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