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
Unraveling the genetic causes of Moebius syndrome
2022 G. Moresco, O. Rondinone, J. Costanza, C. Santaniello, L. Fontana, A. Mauri, M. Venturin, O. Picciolini, R. Villa, M. Miozzo, M.F. Bedeschi
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
Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis
2023 C. Dato, E. Micaglio, G. Moresco, O. Rondinone, P. Vitali, C. Pappone, L. Fontana, M. Miozzo, L. Bet
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing
2024 G. Moresco, M.F. Bedeschi, M. Venturin, R. Villa, J. Costanza, A. Mauri, C. Santaniello, O. Picciolini, L. Messina, F. Triulzi, M.R. Miozzo, O. Rondinone, L. Fontana
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity
2025 G. Moresco, O. Rondinone, A. Mauri, R. Gorgoglione, D.M.G. Graziani, M. Dziuback, M.R. Miozzo, S.M. Sirchia, L. Pietrogrande, A. Peron, L. Fontana
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