Tick-borne Illness: A Panel Discussion About Emerging Diagnostic Insights
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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study
Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.