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Page 1
Effects of silicon and copper on bamboo grown hydroponically.
Collin B, Doelsch E, Keller C, Panfili F, Meunier JD. Collin B, et al. Among authors: panfili f. Environ Sci Pollut Res Int. 2013 Sep;20(9):6482-95. doi: 10.1007/s11356-013-1703-0. Epub 2013 Apr 23. Environ Sci Pollut Res Int. 2013. PMID: 23608981
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Panfili FM, Petrizzelli F, Liorni N, Cortellessa F, Sinibaldi L, Rana I, Agolini E, Cocciadiferro D, Colantoni N, Semeraro M, Rizzo C, Deodati A, Cotugno N, Caggiano S, Verrillo E, Nucci CG, Alkan S, Saraiva JM, De Sá J, Almeida PM, Krishna J, Buonuomo PS, Martinelli D, Dionisi Vici C, Caputo V, Bartuli A, Novelli A, Mazza T. Vecchio D, et al. Among authors: panfili fm. Front Genet. 2024 Dec 11;15:1477940. doi: 10.3389/fgene.2024.1477940. eCollection 2024. Front Genet. 2024. PMID: 39722796 Free PMC article.
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Vecchio D, Panfili FM, Macchiaiolo M, Dentici ML, Trivisano M, Medina CB, Capolino R, Salzano E, Cortellessa F, Busè M, Pantaleo A, Cocciadiferro D, Gonfiantini MV, Niceta M, De Dominicis A, Specchio N, Piccione M, Digilio MC, Tartaglia M, Novelli A, Bartuli A. Vecchio D, et al. Among authors: panfili fm. Eur J Med Genet. 2024 Dec 19;73:104990. doi: 10.1016/j.ejmg.2024.104990. Online ahead of print. Eur J Med Genet. 2024. PMID: 39709003 Free article.
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, Villani A, Minervino D, Martinelli D, Rizzo C, Boenzi S, Panfili FM, Buonuomo PS, Macchiaiolo M, Bartuli A, Novelli A. Cocciadiferro D, et al. Among authors: panfili fm. Front Genet. 2024 Jan 4;14:1307934. doi: 10.3389/fgene.2023.1307934. eCollection 2023. Front Genet. 2024. PMID: 38239854 Free PMC article.
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
Panfili FM, Pietrobattista A, Vecchio D, Gonfiantini MV, Bartuli A, Macchiaiolo M. Panfili FM, et al. Front Genet. 2023 Dec 22;14:1255807. doi: 10.3389/fgene.2023.1255807. eCollection 2023. Front Genet. 2023. PMID: 38188503 Free PMC article. No abstract available.
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Casula M, Gazzotti M, Capra ME, Olmastroni E, Galimberti F, Catapano AL, Pederiva C; LIPIGEN Group and the LIPIGEN Paediatric Group. Casula M, et al. Atherosclerosis. 2023 Nov;385:117231. doi: 10.1016/j.atherosclerosis.2023.117231. Epub 2023 Aug 12. Atherosclerosis. 2023. PMID: 37648636 Free article.
21 results