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Optimizing recruitment in rare disease research: a cross-sectional online study evaluating sampling strategies for hard-to-reach populations.
The effect of the COVID-19 pandemic on epistaxis and anaemia in patients with hereditary haemorrhagic telangiectasia (HHT) in central South Africa.
🥈 ObservacionalEconomic burden of propionic acidemia in the United States: a claims-based study.
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
🥇 Revisão sistemática