Scientific Publication 

Sharing Diagnostic Insights to Support Rare Disease Patients

Author(s): Zaki, Maha S

Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.

Defining a disorder’s complete clinical spectrum requires a detailed description of large numbers of patients. To help advance the understanding of rare diseases, CENTOGENE is committed to leveraging its extensive Bio/Databank and sharing its diagnostic insights within the scientific community. A pertinent study of a rare neurodevelopmental disorder using these insights was recently published in the European Journal of Human Genetics.


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