PRADA, ELISABETTA
PRADA, ELISABETTA
Universita' degli Studi di MILANO
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report
2021-03-31 G. Moresco, J. Costanza, C. Santaniello, O. Rondinone, F. Grilli, E. Prada, S. Orcesi, I. Coro, A. Pichiecchio, P. Marchisio, M. Miozzo, L. Fontana, D. Milani
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
2020-08-01 S. Aleo, C. Cinnante, S. Avignone, E. Prada, G. Scuvera, P.F. Ajmone, A. Selicorni, M.A. Costantino, F. Triulzi, P. Marchisio, C. Gervasini, D. Milani
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
2020-01-01 F. Saettini, R. Herriot, E. Prada, M. Nizon, D. Zama, A. Marzollo, I. Romaniouk, V. Lougaris, M. Cortesi, A. Morreale, R. Kosaki, F. Cardinale, S. Ricci, E. Dominguez-Garrido, D. Montin, M. Vincent, D. Milani, A. Biondi, C. Gervasini, R. Badolato
Unexpected phenotype in a frameshift mutation of PTCH1
2020-01-01 B. Beltrami, E. Prada, G. Tolva, G. Scuvera, R. Silipigni, D. Graziani, G. Bulfamante, C. Gervasini, P. Marchisio, D. Milani
| Titolo | Data di pubblicazione | Autore(i) | Tipo | File | Abstract |
|---|---|---|---|---|---|
| A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report | 31-mar-2021 | Moresco G.Rondinone O.Grilli F.Prada E.Marchisio P.Miozzo M.Fontana L.Milani D. + | Article (author) | - | |
| Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery | 1-ago-2020 | Cinnante, ClaudiaPrada, ElisabettaScuvera, GiuliettaTriulzi, FabioMarchisio, PaolaGervasini, CristinaMilani, Donatella + | Article (author) | - | |
| Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients | 1-gen-2020 | Prada E.Ricci S.Milani D.Gervasini C. + | Article (author) | - | |
| Unexpected phenotype in a frameshift mutation of PTCH1 | 1-gen-2020 | BELTRAMI, BENEDETTAPrada E.Tolva G.Silipigni R.Bulfamante G.Gervasini C.Marchisio P.Milani D. + | Article (author) | - |