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Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).
Cost-utility analysis for sublingual versus intravenous edaravone in the treatment of amyotrophic lateral sclerosis.
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.