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Article
P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*
January 01, 2023
Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
October 21, 2022
Article
Adults with lysosomal storage diseases in the undiagnosed diseases network
September 01, 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
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
March 03, 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