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

by Corral, Edgardo, Barrios, Andres, Isnard, Monica, Saugier-Veber, Pascale, Fortier, Sophie M., Durrin, Sarah, Sepulveda, Waldo
Published in Case Rep Obstet Gynecol (2015)

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

by 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
Published in Mol Genet Metab (2015)