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Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.
Onesimo R, Ricci D, Agazzi C, Leone S, Petrianni M, Orazi L, Amore F, Salerni A, Leoni C, Chieffo D, Tartaglia M, Mercuri E, Zampino G. Onesimo R, et al. Among authors: leoni c. Genes (Basel). 2021 Jun 25;12(7):972. doi: 10.3390/genes12070972. Genes (Basel). 2021. PMID: 34202106 Free PMC article.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: leoni c. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.
Calandrelli R, Pilato F, Massimi L, Onesimo R, D'Apolito G, Tenore L, Romeo D, Leoni C, Zampino G, Colosimo C. Calandrelli R, et al. Among authors: leoni c. Acta Radiol. 2022 Dec;63(12):1703-1711. doi: 10.1177/02841851211055821. Epub 2021 Nov 13. Acta Radiol. 2022. PMID: 34779271
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL, Rogers DJ, Kroening SJ, Zatkalik AL, Whitmarsh AE, Roberts AE, Zenker M, Gambardella ML, Contaldo I, Leoni C, Onesimo R, Zampino G, Tartaglia M, Battaglia DI, Pierpont EI. Kenney-Jung DL, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):501-509. doi: 10.1002/ajmg.c.32022. Epub 2022 Nov 29. Am J Med Genet C Semin Med Genet. 2022. PMID: 36448195 Free PMC article.
213 results