Reports and Articles

 
 
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Dental Abnormalities in Schimke Immuno-osseous Dysplasia

 
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Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

 
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SMARCAL 1 Deficiency Predisposes to Non-Hodgkin Lymphoma and Hypersensitivity to Genotoxic Agents in Vivo

 
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Reduced blastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immune-osseous dysplasia?

 
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Schimke Versus Non-Schimke Chronic Kidney Disease: An Anthropometric Approach

 
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Schimke Immunoosseous Dysplasia

 
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Low renal but high extra renal phenotype variability in Schimke immuno-osseous dysplasia

 

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Schimke Immuno-Osseous Dysplasia: A Cell Autonomous Disorder?

 
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Reduced blastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immune-osseous dysplasia?

 
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Schimke immunodeficiency-ossesous dysplasia: a clinicopathological correlation

 
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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

 
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Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immune-osseous dysplasia

 
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New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals