Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers

Por Vergés, Laia, Molina, Òscar, Geán, Esther, Vidal, Francesca, Blanco, Joan
Publicado no Mol Cytogenet (2014)

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome

Por Vergés, Laia, Vidal, Francesca, Geán, Esther, Alemany-Schmidt, Alexandra, Oliver-Bonet, Maria, Blanco, Joan
Publicado no Sci Rep (2017)

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Por Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto, Marfil, Victoria Esteban, García-Miñaur, Sixto, Lapunzina, Pablo
Publicado em 2011