Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

por Nemirovsky, Sergio I., Ogara, Maria Florencia, Pecci, Adali, Martí, Marcelo Adrián, Vazquez, Martín Pablo, Turjanski, Adrián Gustavo
Publicado 2015

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study

Publicado 2010

Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Publicado 2014

Multiple roles of the F-box protein Slimb in Drosophila egg chamber development

por Wappner, Pablo
Publicado 2005

Multiple roles of the F-box protein Slimb in Drosophila egg chamber development

por Mussopappa, M., Wappner, P.
Publicado 2005

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study

por Daly, A.F., Tichomirowa, M.A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M.-L., Barlier, A., Naves, L.A., Ebeling, T., Karhu, A., Raappana, A., Cazabat, L., De Menis, E., Montañana, C.F., Raverot, G., Weil, R.J., Sane, T., Maiter, D., Neggers, S., Yaneva, M., Tabarin, A., Verrua, E., Eloranta, E., Murat, A., Vierimaa, O., Salmela, P.I., Emy, P., Toledo, R.A., Sabaté, M.I., Villa, C., Popelier, M., Salvatori, R., Jennings, J., Longás, Á.F., Aizpún, J.I.L., Georgitsi, M., Paschke, R., Ronchi, C., Valimaki, M., Saloranta, C., De Herder, W., Cozzi, R., Guitelman, M., Magri, F., Lagonigro, M.S., Halaby, G., Corman, V., Hagelstein, M.-T., Vanbellinghen, J.-F., Barra, G.B., Gimenez-Roqueplo, A.-P., Cameron, F.J., Borson-Chazot, F., Holdaway, I., Toledo, S.P.A., Stalla, G.K., Spada, A., Zacharieva, S., Bertherat, J., Brue, T., Bours, V., Chanson, P., Aaltonen, L.A., Beckers, A.

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

por Nemirovsky, S.I., Córdoba, M., Zaiat, J.J., Completa, S.P., Vega, P.A., González-Morón, D., Medina, N.M., Fabbro, M., Romero, S., Brun, B., Revale, S., Ogara, M.F., Pecci, A., Marti, M., Vazquez, M., Turjanski, A., Kauffman, M.A.

Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

por Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F.

Multiple roles of the F-box protein Slimb in Drosophila egg chamber development

por Mussopappa, M., Wappner, P.

Multiple roles of the F-box protein Slimb in Drosophila egg chamber development

por Mussopappa, M., Wappner, P.
Publicado 2005