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Long read sequencing on its way to the routine diagnostics of genetic diseases.
Front Genet. 2024 Mar 6;15:1374860. doi: 10.3389/fgene.2024.1374860. eCollection 2024.
Front Genet. 2024.
PMID: 38510277
Free PMC article.
Review.
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Aiello V, Ciurli F, Conti A, Cristalli CP, Lerario S, Montanari F, Sciascia N, Vischini G, Fabbrizio B, Di Costanzo R, Olivucci G, Pietra A, Lopez A, Zambianchi L, La Manna G, Capelli I.
Aiello V, et al. Among authors: olivucci g.
Genes (Basel). 2023 Dec 19;15(1):3. doi: 10.3390/genes15010003.
Genes (Basel). 2023.
PMID: 38275584
Free PMC article.
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Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
Innoceta AM, Olivucci G, Parmeggiani G, Scarano E, Pragliola A, Graziano C.
Innoceta AM, et al. Among authors: olivucci g.
Genes (Basel). 2023 Jan 19;14(2):258. doi: 10.3390/genes14020258.
Genes (Basel). 2023.
PMID: 36833185
Free PMC article.
Review.
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One-carbon pathway and cognitive skills in children with Down syndrome.
Antonaros F, Lanfranchi S, Locatelli C, Martelli A, Olivucci G, Cicchini E, Carosi Diatricch L, Mannini E, Vione B, Feliciello A, Ramacieri G, Onnivello S, Vianello R, Vitale L, Pelleri MC, Strippoli P, Cocchi G, Pulina F, Piovesan A, Caracausi M.
Antonaros F, et al. Among authors: olivucci g.
Sci Rep. 2021 Feb 19;11(1):4225. doi: 10.1038/s41598-021-83379-7.
Sci Rep. 2021.
PMID: 33608632
Free PMC article.
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MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme-based method improving previous protocols.
Antonaros F, Olivucci G, Cicchini E, Ramacieri G, Pelleri MC, Vitale L, Strippoli P, Locatelli C, Cocchi G, Piovesan A, Caracausi M.
Antonaros F, et al. Among authors: olivucci g.
Mol Genet Genomic Med. 2019 May;7(5):e628. doi: 10.1002/mgg3.628. Epub 2019 Mar 13.
Mol Genet Genomic Med. 2019.
PMID: 30868767
Free PMC article.
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