Export 26 results:
Autore [ Titolo(Asc)] Tipo Anno
Filtri: Autore è Faletra, Flavio  [Clear All Filters]
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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.
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Bianco AMonica, Faletra F, Vozzi D, Girardelli M, Knowles A, Tommasini A, Zauli G, Marcuzzi A. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Mol Med Rep 2015;12(4):6128-32.
Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GBattista, Romano C, d'Adamo APio, Faletra F, Vozzi D. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Mutat Res 2015;781:32-6.
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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.
P
Travan L, Naviglio S, De Cunto A, Pellegrin A, Pecile V, Spinelli AMauro, Cappellani S, Faletra F. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. Am J Med Genet A 2017;
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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.
Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
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.
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
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.
Bordugo A, Carlin E, Demarini S, Faletra F, Colonna F. A neonate with a 'milky' blood. What can it be?. Arch Dis Child Fetal Neonatal Ed 2014;99(6):F514.
H
Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM. Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations. Ophthalmic Genet 2011;32(4):212-6.

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