Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Positive Emotional Support in Premutation Carrier Mothers of Adolescents and Adults With Fragile X Syndrome: Gene by Environment Interactions.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
Developmental differences in microglia morphology and gene expression during normal brain development and in response to hypoxia-ischemia.
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
