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[ Autore(Desc)] Titolo Tipo Anno
Filtri: Autore è Faletra, Flavio  [Clear All Filters]
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Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80.
Faletra F, Bruno I, Berti I, Pastore S, Pirrone A, Tommasini A. A red baby should not be taken too lightly. Acta Paediatr 2012;101(12):e573-7.
Faletra F, d'Adamo APio, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
Faletra F, d'Adamo APio, Rocca MSanta, Carrozzi M, Perrone MDolores, Pecile V, Gasparini P. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
Faletra F, d'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 2011;32(4):256-8.
Faletra F, Girotto G, d'Adamo APio, Vozzi D, Morgan A, Gasparini P. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9.

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