Canlyniadau Chwilio - Taillandier, Agnès

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles gan Fauvert, Delphine, Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Bellazi, Linda, Taillandier, Agnès, Serre, Jean-Louis, de Mazancourt, Philippe, Mornet, Etienne

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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation gan Mornet, Etienne, Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Benaloun, Emmanuelle, Lavaud, Nicole, Wallon, Fabienne, Rousseau, Nathalie, Charle, Carole, Guberto, Mihelaiti, Muti, Christine, Simon-Bouy, Brigitte

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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing gan Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

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