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113 results

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Page 1
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, Hidalgo AB, Cormier-Daire V, Lyonnet S, Picard A, Rio M, Zaiter A, Garcelon N, Tkemaladze T, Khonsari RH. Hennocq Q, et al. Among authors: garcelon n. Clin Genet. 2024 Dec 26. doi: 10.1111/cge.14682. Online ahead of print. Clin Genet. 2024. PMID: 39726094
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: garcelon n. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: garcelon n. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: garcelon n. J Craniomaxillofac Surg. 2024 Oct;52(10):1172-1187. doi: 10.1016/j.jcms.2024.02.010. Epub 2024 Feb 5. J Craniomaxillofac Surg. 2024. PMID: 39187417 Free article.
Orbital volume and shape in Treacher Collins syndrome.
Levasseur J, Nysjö J, Sandy R, Britto JA, Garcelon N, Haber S, Picard A, Corre P, Odri GA, Khonsari RH. Levasseur J, et al. Among authors: garcelon n. J Craniomaxillofac Surg. 2018 Feb;46(2):305-311. doi: 10.1016/j.jcms.2017.11.028. Epub 2017 Dec 8. J Craniomaxillofac Surg. 2018. PMID: 29275073
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Among authors: garcelon n. BMC Med Inform Decis Mak. 2024 May 24;24(1):134. doi: 10.1186/s12911-024-02538-8. BMC Med Inform Decis Mak. 2024. PMID: 38789985 Free PMC article.
Natural history of Myhre syndrome.
Yang DD, Rio M, Michot C, Boddaert N, Yacoub W, Garcelon N, Thierry B, Bonnet D, Rondeau S, Herve D, Guey S, Angoulvant F, Cormier-Daire V. Yang DD, et al. Among authors: garcelon n. Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x. Orphanet J Rare Dis. 2022. PMID: 35907855 Free PMC article.
113 results