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Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
October 21, 2022
Article
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
March 03, 2022
Article
Education and consent for population-based DNA screening: A mixed-methods evaluation of the Early Check Newborn Screening Pilot Study
May 12, 2022
Article
Adults with lysosomal storage diseases in the undiagnosed diseases network
September 01, 2022
Article
Parent attitudes and perceptions after receiving Fragile X premutation results in the Early Check Newborn Screening Pilot Study (eP300)
March 01, 2022
Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
February 01, 2022
Article
P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*
January 01, 2023