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Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis.
Castellani C, Simmonds NJ, Barben J, Addy C, Bevan A, Burgel PR, Drevinek P, Gartner S, Gramegna A, Lammertyn E, Landau EEC, Middleton PG, Plant BJ, Smyth AR, van Koningsbruggen-Rietschel S, Girodon E, Kashirskaya N, Munck A, Nährlich L, Raraigh K, Sermet-Gaudelus I, Sommerburg O, Southern KW. Castellani C, et al. Among authors: girodon e. J Cyst Fibros. 2023 Nov;22(6):963-968. doi: 10.1016/j.jcf.2023.09.008. Epub 2023 Sep 27. J Cyst Fibros. 2023. PMID: 37775442
[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Among authors: girodon e. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Free article. Review. French.
Clinical interpretation of PRSS1 variants in patients with pancreatitis.
Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Ferec C, Bienvenu T. Girodon E, et al. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101497. doi: 10.1016/j.clinre.2020.07.004. Epub 2020 Nov 27. Clin Res Hepatol Gastroenterol. 2021. PMID: 33257277 Review.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: girodon e. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
125 results