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210 results

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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.
Bone health in RASopathies.
Stevenson DA, Viscogliosi G, Leoni C. Stevenson DA, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):459-470. doi: 10.1002/ajmg.c.32020. Epub 2022 Dec 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 36461161 Review.
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Onesimo R, et al. Among authors: leoni c. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):478-493. doi: 10.1002/ajmg.c.32019. Epub 2022 Dec 14. Am J Med Genet C Semin Med Genet. 2022. PMID: 36515923 Review.
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
Sforza E, Margiotta G, Giorgio V, Limongelli D, Proli F, Kuczynska EM, Leoni C, De Rose C, Trevisan V, Romeo DM, Calandrelli R, De Corso E, Massimi L, Palmacci O, Rigante D, Zampino G, Onesimo R. Sforza E, et al. Among authors: leoni c. Genes (Basel). 2023 Jan 12;14(1):199. doi: 10.3390/genes14010199. Genes (Basel). 2023. PMID: 36672940 Free PMC article. Review.
210 results