Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.
Carole FaviezMarc VincentNicolas GarcelonCaroline MichotGeneviève BaujatValerie Cormier-DaireSophie SaunierXiaoyi ChenAnita BurgunPublished in: MIE (2022)