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Schimke immunoosseous dysplasia

Known as: Immunoosseous Dysplasia, Schimke Type, Immunoosseous dysplasia Schimke type, SIOD 
 
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Completion of DNA replication after replication stress depends on PCNA, which undergoes monoubiquitination to stimulate direct… Expand
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Highly Cited
2012
Highly Cited
2012
  • Y. Wu
  • Journal of nucleic acids
  • 2012
  • Corpus ID: 983529
Helicases are enzymes that use ATP-driven motor force to unwind double-stranded DNA or RNA. Recently, increasing evidence… Expand
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2012
2012
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of… Expand
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2009
2009
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent… Expand
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Highly Cited
2009
Highly Cited
2009
Mutations in SMARCAL1 (HARP) cause Schimke immunoosseous dysplasia (SIOD). The mechanistic basis for this disease is unknown… Expand
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Highly Cited
2009
Highly Cited
2009
The integrity of genomic DNA is continuously challenged by the presence of DNA base lesions or DNA strand breaks. Here we report… Expand
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Highly Cited
2007
Highly Cited
2007
  • J. Marietta Clewing, H. Fryssira, +58 authors Cornelius F. Boerkoel
  • Human mutation
  • 2007
  • Corpus ID: 28367651
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T‐cell deficiency, and… Expand
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Highly Cited
2002
Highly Cited
2002
Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features… Expand
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1998
1998
The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent… Expand
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1998
1998
Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke… Expand
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