Search Results - "Albert, Angelika"
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A Translational Study of Splenomegaly During Sepsis and Associated IL-3 Induced Expansion in Splenocyte Counts
Published 01-01-2022“…Introduction:This translational study investigates the immunopathogenesis of intraabdominal sepsis in the spleen. Its objective is to translate the splenic…”
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Dissertation -
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Published in European journal of human genetics : EJHG (01-11-2004)“…To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene…”
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Journal Article -
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Large Intergenerational Variation in Age of Onset in Two Young Patients With Huntington's Disease Presenting as Dyskinesia
Published in Pediatrics (Evanston) (01-11-1997)“…The number of CAG trinucleotide repeats expressed in Huntington's disease (HD) may not always be as predictive for age of onset as previously believed. HD is a…”
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Journal Article -
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MRX42: Two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation
Published in American journal of medical genetics (01-01-2002)“…A nonspecific X‐linked mental retardation (MRX) family is reported with four mild to moderately affected males and no intellectual impairment in their obligate…”
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Journal Article -
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