Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Autor Malvestiti, Francesca, Benedicenti, Francesco, De Toffol, Simona, Chinetti, Sara, Höller, Adelheid, Grimi, Beatrice, Fichtel, Gertrud, Braghetto, Monica, Agrati, Cristina, Bonaparte, Eleonora, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana
Vydáno 2013

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Autor Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C, Rossi, Sabrina, Delezoïde, Anne L, Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R
Vydáno 2014

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based...

Autor Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fahd, Balmaña, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T.L. Chris, Claes, Kathleen B.M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, De Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v.O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lázaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo I., Pachter, Nicholas S., Palmero, Edenir I., Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Törngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, Gómez-García, Encarna B.
Vydáno v JCO Precis Oncol (2018)