Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

por Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M.F., Sangiorgi, L., Rohrbach, M., Giunta, C.
Publicado 2017

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing()

por Moncini, S., Bedeschi, M.F., Castronovo, P., Crippa, M., Calvello, M., Garghentino, R.R., Scuvera, G., Finelli, P., Venturin, M.
Publicado 2013

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

por Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F., Lalatta, Faustina
Publicado 2016

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

por Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.
Publicado 2018

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

por Brizola, E., Adami, G., Baroncelli, G. I., Bedeschi, M. F., Berardi, P., Boero, S., Brandi, M. L., Casareto, L., Castagnola, E., Fraschini, P., Gatti, D., Giannini, S., Gonfiantini, M. V., Landoni, V., Magrelli, A., Mantovani, G., Michelis, M. B., Nasto, L. A., Panzeri, L., Pianigiani, E., Scopinaro, A., Trespidi, L., Vianello, A., Zampino, G., Sangiorgi, L.
Publicado 2020