selected publications
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Repeatability of anorectal manometry in healthy volunteers and patients.
The Journal of surgical research.
2013
Academic Article
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Times cited: 15 -
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?.
Orphanet journal of rare diseases.
2012
Academic Article
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Times cited: 27 -
Gene clusters, molecular evolution and disease: a speculation.
Current genomics.
2009
Academic Article
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Times cited: 27 -
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.
Journal of neuropathology and experimental neurology.
2008
Academic Article
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Times cited: 29 -
Cerebellar atrophy in Schimke-immuno-osseous dysplasia.
American journal of medical genetics. Part A.
2007
Article
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Times cited: 17 -
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Human mutation.
2007
Academic Article
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Times cited: 55 -
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved?.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.
2006
Academic Article
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Times cited: 11 -
Schimke immuno-osseous dysplasia: a clinicopathological correlation.
Journal of medical genetics.
2006
Article
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Times cited: 55 -
Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.
Pediatrics.
2006
Academic Article
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Times cited: 30 -
Schimke immuno-osseous dysplasia: a cell autonomous disorder?.
American journal of medical genetics. Part A.
2006
Academic Article
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Times cited: 31