Sfoglia per Autore
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
Let time teach you : A case report of a double diagnosis of 17P duplication and Ehlers-Danlos syndrome
2022 P. Castronovo, S. Aleo, A. Seresini, F. Grilli, E. Brunati, P. Marchisio, S. Guez, 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
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
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
2023 V. Tritto, F. Grilli, D. Milani, P.V. Riva
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