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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: autret s. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.
Saliou P, Le Gac G, Mercier AY, Chanu B, Guéguen P, Mérour MC, Gourlaouen I, Autret S, Le Maréchal C, Rouault K, Nousbaum JB, Férec C, Scotet V. Saliou P, et al. Among authors: autret s. PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013. PLoS One. 2013. PMID: 24339903 Free PMC article.
Single-cell analysis in situ in a Bacillus subtilis swarming community identifies distinct spatially separated subpopulations differentially expressing hag (flagellin), including specialized swarmers.
Hamze K, Autret S, Hinc K, Laalami S, Julkowska D, Briandet R, Renault M, Absalon C, Holland IB, Putzer H, Séror SJ. Hamze K, et al. Among authors: autret s. Microbiology (Reading). 2011 Sep;157(Pt 9):2456-2469. doi: 10.1099/mic.0.047159-0. Epub 2011 May 20. Microbiology (Reading). 2011. PMID: 21602220 Free article.
18 results