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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.
📖 RevisãoBrain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction.
🥈 ObservacionalFat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.