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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S. Karali M, et al. Among authors: onore me. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: onore me. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D. Zacchia M, et al. Among authors: onore me. Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun. Clin Kidney J. 2020. PMID: 34084454 Free PMC article.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Savarese M, Vihola A, Jokela ME, Huovinen SP, Gerevini S, Torella A, Johari M, Scarlato M, Jonson PH, Onore ME, Hackman P, Gautel M, Nigro V, Previtali SC, Udd B. Savarese M, et al. Among authors: onore me. Neurol Genet. 2021 Aug 10;7(5):e619. doi: 10.1212/NXG.0000000000000619. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34386585 Free PMC article.
14 results