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Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.
📖 RevisãoThe RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study.
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Programmed Sports Therapy (PST) in People with Haemophilia (PwH) "Sports Therapy Model for Rare Diseases".
📖 Revisão