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Young boy with a long history of splenomegaly and cytopenia.
De Nardi L, Zanchi C, Basso L, Sanabor D, Di Leo G, Barbi E. De Nardi L, et al. Arch Dis Child Educ Pract Ed. 2022 Apr;107(2):118-120. doi: 10.1136/archdischild-2019-318626. Epub 2020 Oct 15. Arch Dis Child Educ Pract Ed. 2022. PMID: 33060125 Free article.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
Don't just look at the surface: when mucosa tells more than the skin.
Trombetta A, De Nardi L, Barbi E, Declich V, Dall'Amico R. Trombetta A, et al. Among authors: de nardi l. Arch Dis Child Educ Pract Ed. 2022 Aug;107(4):265-267. doi: 10.1136/archdischild-2020-319195. Epub 2021 Jan 27. Arch Dis Child Educ Pract Ed. 2022. PMID: 33504471 Free PMC article. No abstract available.
Topical Clobetasol: An Overlooked Cause of Cushing Syndrome.
Ghirardo S, De Nardi L, Tommasini A, Barbi E, Tornese G. Ghirardo S, et al. Among authors: de nardi l. Endocr Metab Immune Disord Drug Targets. 2021;21(12):2300-2302. doi: 10.2174/1871530321666210426131423. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 33902425 Free article.
24 results