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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. Among authors: barbi e. 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
Widening sedation availability.
Barbi E, Bruno I, Ventura A. Barbi E, et al. J Pediatr. 2005 Mar;146(3):438-9; author reply 439. doi: 10.1016/j.jpeds.2004.09.016. J Pediatr. 2005. PMID: 15756247 No abstract available.
A Child With Self-Improving Hypotonia: Look at the Skin!
Conversano E, Agrusti A, Conti R, Magnolato A, Bruno I, Colombi M, Barbi E, Faletra F. Conversano E, et al. Among authors: barbi e. J Pediatr. 2020 Oct;225:269-270. doi: 10.1016/j.jpeds.2020.05.057. Epub 2020 Jun 6. J Pediatr. 2020. PMID: 32511961 No abstract available.
An unusual diagnosis for an usual test.
Trombetta A, Migliarino V, Faletra F, Barbi E, Tornese G. Trombetta A, et al. Among authors: barbi e. Ital J Pediatr. 2020 Jun 10;46(1):81. doi: 10.1186/s13052-020-00846-z. Ital J Pediatr. 2020. PMID: 32522262 Free PMC article.
526 results