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Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype.
Tortora M, Cattaneo E, Spaccini L, Iascone M, Scelsa B, Micalizzi A, Novelli A, Lanna M, Righini A, Veggiotti P, Doneda C. Tortora M, et al. Among authors: spaccini l. Neurol Genet. 2024 Jun 13;10(4):e200169. doi: 10.1212/NXG.0000000000200169. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39139262 Free PMC article.
Mild ventriculomegaly from fetal consultation to neurodevelopmental assessment: A single center experience and review of the literature.
Scelsa B, Rustico M, Righini A, Parazzini C, Balestriero MA, Introvini P, Spaccini L, Mastrangelo M, Lista G, Zuccotti GV, Veggiotti P. Scelsa B, et al. Among authors: spaccini l. Eur J Paediatr Neurol. 2018 Nov;22(6):919-928. doi: 10.1016/j.ejpn.2018.04.001. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709429 Review.
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: spaccini l. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
Major Discordant Structural Anomalies in Monochorionic Twins: Spectrum and Outcomes.
Rustico MA, Lanna M, Faiola S, Casati D, Spaccini L, Righini A, Parazzini C, Napolitano M, Scelsa B, Lista G, Corti C, Riccipetitoni G, Cetin I. Rustico MA, et al. Among authors: spaccini l. Twin Res Hum Genet. 2018 Dec;21(6):546-555. doi: 10.1017/thg.2018.58. Epub 2018 Oct 30. Twin Res Hum Genet. 2018. PMID: 30375322
71 results