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Page 1
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: rimet y. 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.
[Prevention advice for families].
Brusquet Y, Poujol A, Rimet Y, Cornus P, Courcier D. Brusquet Y, et al. Among authors: rimet y. Rev Prat. 1992 Sep 15;42(14):1762-5. Rev Prat. 1992. PMID: 1480934 Review. French.
[Subphrenic abscess due to ectopic appendicitis].
Di Marco JN, Poujol A, Rimet Y, Jarry JM, Bryselbout MA, Brusquet Y. Di Marco JN, et al. Among authors: rimet y. Arch Pediatr. 1999 Sep;6(9):975-8. doi: 10.1016/s0929-693x(99)80592-2. Arch Pediatr. 1999. PMID: 10519033 French.
[Apropos of 100 cases of malaise in infants].
Laisne C, Rimet Y, Poujol A, Cornus P, Courcier D, Coze C, Brusquet Y. Laisne C, et al. Among authors: rimet y. Ann Pediatr (Paris). 1989 Sep;36(7):451-4. Ann Pediatr (Paris). 1989. PMID: 2817699 French.
15 results