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The University of Chicago

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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	Intellectual Disability
Concept	Mental Retardation, X-Linked
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	Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.
Academic Article	Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Academic Article	Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Academic Article	De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.
Academic Article	Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

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Intellectual Disability