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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
New Insights Into TRMT10A Syndrome: Case Report and Literature Review.
Ceraolo G, Spoto G, Butera A, Spanò M, Vinci M, Vitello GA, Musumeci A, Calì F, Nicotera AG, Di Rosa G. Ceraolo G, et al. Among authors: cali f. Am J Med Genet B Neuropsychiatr Genet. 2024 Oct 23:e33015. doi: 10.1002/ajmg.b.33015. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 39440920
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders.
Treccarichi S, Calì F, Vinci M, Ragalmuto A, Musumeci A, Federico C, Costanza C, Bottitta M, Greco D, Saccone S, Elia M. Treccarichi S, et al. Among authors: cali f. Curr Issues Mol Biol. 2024 Jun 26;46(7):6407-6422. doi: 10.3390/cimb46070383. Curr Issues Mol Biol. 2024. PMID: 39057025 Free PMC article.
115 results