RINALDI, BERARDO
RINALDI, BERARDO
Universita' degli Studi di MILANO
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
2023 B. Rinaldi, A. Bayat, L.G. Zachariassen, J. Sun, Y. Ge, D. Zhao, K. Bonde, L.H. Madsen, I.A.A. Awad, D. Bagiran, A. Sbeih, S.M. Shah, S. El-Sayed, S.M. Lyngby, M.G. Pedersen, C. Stenum-Berg, L.C. Walker, I. Krey, A. Delahaye-Duriez, L.T. Emrick, K. Sully, C.N. Murali, L.C. Burrage, J.A. Plaud Gonzalez, M. Parnes, J. Friedman, B. Isidor, J. Lefranc, S. Redon, D. Heron, C. Mignot, B. Keren, M. Fradin, C. Dubourg, S. Mercier, T. Besnard, B. Cogne, W. Deb, C. Rivier, D. Milani, M.F. Bedeschi, C. Di Napoli, F. Grilli, P. Marchisio, S. Koudijs, D. Veenma, E. Argilli, S.A. Lynch, P.Y.B. Au, F.E. Ayala Valenzuela, C. Brown, D. Masser-Frye, M. Jones, L. Patron Romero, W.L. Li, E. Thorpe, L. Hecher, J. Johannsen, J. Denecke, V. Mcniven, A. Szuto, E. Wakeling, V. Cruz, V. Sency, H. Wang, J. Piard, F. Kortüm, T. Herget, T. Bierhals, A. Condell, B.B. Zeev, S. Kaur, J. Christodoulou, A. Piton, C. Zweier, C. Kraus, A. Micalizzi, M. Trivisano, N. Specchio, G. Lesca, R.S. Møller, Z. Tümer, M. Musgaard, B. Gerard, J.R. Lemke, Y.S. Shi, A.S. Kristensen
Ocular features in Williams-Beuren syndrome: a review of the literature
2023 M. Nassisi, C. Mainetti, A. Aretti, A. Sperti, V. Nicotra, B. Rinaldi, F. Natacci, M.F. Bedeschi, F. Viola
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome
2022 B. Rinaldi, C. Cesaretti, S. Boito, R. Villa, S. Guerneri, I. Borzani, T. Rizzuti, D. Marchetti, G. Conte, C. Cinnante, F. Triulzi, N. Persico, M. Iascone, F. Natacci
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
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
2021 E. Rosina, B. Rinaldi, R. Silipigni, L. Bergamaschi, G. Gattuso, S. Signoroni, S. Guerneri, A. Carnevali, P.G. Marchisio, D. Milani