885 papers found
Refreshing results…
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
UploadNewborn screening and disease variants predict neurological outcome in isovaleric aciduria
UploadThe Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Download from doi.orgPhenylalanine effects on brain function in adult phenylketonuria
UploadLong-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
UploadMissing publications? Read more about our data sources.