| Bibliographic Citation
| - Esteve Clothilde, Bourchany Aurélie, Marinier Evelyne, Blanchard Arnaud, Bourgeois Patrice, Brochier-Armanet Céline, Bruel Ange-Line, Delarue Arnauld, Duffourd Yannis, Héry Géraldine, Huet Frédéric, Gonzales Emmanuel, Lacoste Caroline, Riviere Jean-Baptiste, Roquelaure Bertrand, Sigaudy Sabine, Thauvin-Robinet Christel, Thevenon Julien, Sarles Jacques, Lévy Nicolas, Badens Catherine, Goulet Olivier, Hugot Jean-Pierre, Katsanis Nicholas, Faivre Laurence, Fabre Alexandre. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364 - 374. ⟨10.1016/j.ajhg.2018.01.009⟩
- EsteveClothilde, FrancescattoLudmila, TanPerciliz, BourchanyAurélie, de LeusseCécile, MarinierEvelyne, BlanchardArnaud, BourgeoisPatrice, Brochier-ArmanetCéline, BruelAnge-Line, DelarueArnauld, DuffourdYannis, Ecochard-DugelayEmmanuel, HéryGéraldine, HuetFrédéric, GauchezPhilippe, GonzalesEmmanuel, Guettier-BouttierCatherine, KomutaMina, LacosteCaroline, MaudinasRaphaelle, MazodierKarin, RimetYves, RiviereJean-Baptiste, RoquelaureBertrand, SigaudySabine, StephenneXavier, Thauvin-RobinetChristel, ThevenonJulien, SarlesJacques, LévyNicolas, BadensCatherine, GouletOlivier, HugotJean-Pierre, KatsanisNicholas, FaivreLaurence, FabreAlexandre . Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility . American Journal of Human Genetics, 2018, 102 (3), pp.364 - 374 . ⟨10.1016/j.ajhg.2018.01.009⟩
- Esteve Clothilde, Bourchany Aurélie, Marinier Evelyne, Blanchard Arnaud, Bourgeois Patrice, Brochier-Armanet Céline, Bruel Ange-Line, Delarue Arnauld, Duffourd Yannis, Héry Géraldine, Huet Frédéric, Gonzales Emmanuel, Lacoste Caroline, Riviere Jean-Baptiste, Roquelaure Bertrand, Sigaudy Sabine, Thauvin-Robinet Christel, Thevenon Julien, Sarles Jacques, Lévy Nicolas, Badens Catherine, Goulet Olivier, Hugot Jean-Pierre, Katsanis Nicholas, Faivre Laurence, Fabre Alexandre . Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility . American Journal of Human Genetics, 2018, 102 (3), pp.364 - 374 . ⟨10.1016/j.ajhg.2018.01.009⟩
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