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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valerie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun. Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. BMC Med. Inf. & Decision Making, 24(1):134, December 2024. [doi]

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