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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

Turning Rare Disease Networks into Knowledge

CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE […]

Article
Jan 19, 2021
  • Hepatology
  • Metabolic Disorders
  • Neurology
  • Hematology
  • Biomarker
  • NGS
  • Mutation Database
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Manifestation and Progression of an Ultra-Rare Disorder

Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed […]

Article
May 14, 2020
  • Hepatology
  • Mutation Database
  • WES
  • WGS
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