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Stay above the current with our latest scientific articles
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Defining the Clinical Spectrum of Rare Disorders
Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the relevance of this phenomenon…
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Linking Seizures and Amino Acid Homeostasis
Seizures are part of the phenotypic spectrum in numerous rare disorders, but the underlying pathophysiology is rarely understood. For a novel seizure syndrome, the transmembrane transport of certain amino acids could now…
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Combining Genetic Insights and Therapeutic Efforts
The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can conceptually be combined with…
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