Sfoglia per Autore
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
2020 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 B. Beltrami, E. Prada, G. Tolva, G. Scuvera, R. Silipigni, D. Graziani, G. Bulfamante, C. Gervasini, P. Marchisio, D. Milani
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
2020 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
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report
2021 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
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
2022 G. Moresco, O. Rondinone, A. Mauri, J. Costanza, C. Santaniello, P. Colapietro, E. Micaglio, G. Marfia, C. Pesenti, F. Grilli, B. Rinaldi, E. Prada, G. Scuvera, R. Villa, M.F. Bedeschi, M.R. Miozzo, D. Milani, L. Fontana
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