Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

מאת Corral, Edgardo, Barrios, Andres, Isnard, Monica, Saugier-Veber, Pascale, Fortier, Sophie M., Durrin, Sarah, Sepulveda, Waldo
הוצא לאור ב Case Rep Obstet Gynecol (2015)

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

מאת 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
הוצא לאור ב Mol Genet Metab (2015)