Exploratory Multidimensional Analysis of Behavioral and Imaging Data in Angelman Syndrome

Pediatrician Involvement in Communicating Positive Newborn Screening Results for Krabbe Disease: Barriers, Facilitators, and Ideas for Interventions

Natural History of YWHAG-associated Neurodevelopmental Disorder

Prevalence of Neurological Symptoms in Pediatric and Adult Patients with Homocystinuria

Minigene Assay of an Intronic Variant to Investigate Phenotypic Variability of ATP1A3 Splice Variants