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Del Gaudio, Daniela
One or more keywords matched the following items that are connected to
Del Gaudio, Daniela
Item Type
Name
Concept
Epilepsy
Concept
Genetics, Medical
Academic Article
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
Academic Article
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Academic Article
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Academic Article
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Search Criteria
Epilepsy
genetics