Search Results - Maudinas, Raphaelle

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  1. 1
    A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia

    A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia by Leclercq, Thibault, Falcon-Eicher, Sylvie, Farnier, Michel, Le Bret, Emmanuel, Maudinas, Raphaëlle, Litzler-Renault, Stéphanie, Mousson, Christiane, Lorgis, Luc, Cottin, Yves

    Published 2020
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    Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

    Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility by 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 2018
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