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Page 1
An unusual diagnosis for an usual test.
Trombetta A, Migliarino V, Faletra F, Barbi E, Tornese G. Trombetta A, et al. Among authors: faletra f. 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.
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: faletra f. 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.
Infant with a big head and 'crossed' polysyndactyly.
Tamaro G, Baldo F, Spedicati B, Taddio A, Faletra F, Barbi E. Tamaro G, et al. Among authors: faletra f. J Paediatr Child Health. 2023 May;59(5):770-771. doi: 10.1111/jpc.16063. Epub 2022 Jun 18. J Paediatr Child Health. 2023. PMID: 35716028 No abstract available.
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: faletra f. 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
287 results