Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
Surveillance of infants at risk of apparent life threatening events (ALTE) with the BBA bootee: a wearable multiparameter monitor
Rimet, Y., Brusquet, Y., Ronayette, D., Dageville, C., Lubrano, M., Mallet, E., Rambaud, C., Terlaud, C., Silve, J., Lerda, O., Netchiporouk, L.I., Weber, J.-L.
Published in 2007 29th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (01.01.2007)
Published in 2007 29th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (01.01.2007)
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Conference Proceeding
Journal Article
Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A
Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz, Bourchany, Aurelie, De Leusse, Cecile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Celine, Ange-Line Bruel, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Gauchez, Philippe, Hery, Geraldine, Huet, Frederic, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Riviere, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre
Published in bioRxiv (26.10.2017)
Published in bioRxiv (26.10.2017)
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