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Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.
Ophthalmic Genet. 2024 Apr 8:1-5. doi: 10.1080/13816810.2024.2337879. Online ahead of print.
Ophthalmic Genet. 2024.
PMID: 38590032
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, Romagnani P.
Becherucci F, et al. Among authors: dirupo e.
J Am Soc Nephrol. 2023 Apr 1;34(4):706-720. doi: 10.1681/ASN.0000000000000076. Epub 2023 Jan 17.
J Am Soc Nephrol. 2023.
PMID: 36753701
Free PMC article.
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Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V, Raglianti V, Landini S, Cirillo L, Errichiello C, Buti E, Artuso R, Tiberi L, Vergani D, Dirupo E, Romagnani P, Mazzinghi B, Becherucci F.
Palazzo V, et al. Among authors: dirupo e.
Int J Mol Sci. 2022 May 18;23(10):5641. doi: 10.3390/ijms23105641.
Int J Mol Sci. 2022.
PMID: 35628451
Free PMC article.
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