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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: hery g. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
Prenatal imaging presentation of Meckel diverticulum.
Lesieur E, Boubnova J, Héry G, Lafouge A, Quarello E, Bretelle F, Sigaudy S, Gorincour G. Lesieur E, et al. Among authors: hery g. Diagn Interv Imaging. 2017 Jul-Aug;98(7-8):569-570. doi: 10.1016/j.diii.2017.03.008. Epub 2017 Apr 13. Diagn Interv Imaging. 2017. PMID: 28412231 Free article. No abstract available.
Contribution of the foetal uro-MRI in the prenatal diagnosis of uronephropathies.
Pico H, Dabadie A, Bourliere-Najean B, Philip N, Capelle M, Aschero A, Quarello E, Guys JM, Hery G, Petit P, Gorincour G. Pico H, et al. Among authors: hery g. Diagn Interv Imaging. 2014 Jun;95(6):573-8. doi: 10.1016/j.diii.2014.02.011. Epub 2014 Mar 15. Diagn Interv Imaging. 2014. PMID: 24637205 Free article.
70 results