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Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, Garcia H, Martin Y, Benoit V, Vincent M, Faour H, Douillet M, Lyonnet S, Saunier S, Burgun A. Chen X, et al. Among authors: vincent m. J Biomed Inform. 2019 Dec;100:103308. doi: 10.1016/j.jbi.2019.103308. Epub 2019 Oct 14. J Biomed Inform. 2019. PMID: 31622800 Free article.
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, Boyer O, Knebelmann B, Heidet L, Saunier S, Chen X, Burgun A. Faviez C, et al. Among authors: vincent m. Orphanet J Rare Dis. 2024 Feb 10;19(1):55. doi: 10.1186/s13023-024-03063-7. Orphanet J Rare Dis. 2024. PMID: 38336713 Free PMC article.
Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children.
Neven B, Diana JS, Castelle M, Magnani A, Rosain J, Touzot F, Moreira B, Fremond ML, Briand C, Bendavid M, Levy R, Morelle G, Vincent M, Magrin E, Bourget P, Chatenoud L, Picard C, Fischer A, Moshous D, Blanche S. Neven B, et al. Among authors: vincent m. Biol Blood Marrow Transplant. 2019 Jul;25(7):1363-1373. doi: 10.1016/j.bbmt.2019.03.009. Epub 2019 Mar 12. Biol Blood Marrow Transplant. 2019. PMID: 30876929 Free article. Clinical Trial.
1,848 results