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Alpha-lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia.
Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease.
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.
Myocardial analysis from routine 4D cardiac-CT to predict reverse remodeling and clinical outcomes after transcatheter aortic valve implantation.