Export 26 results:
Autore Titolo Tipo [ Anno(Asc)]
Filtri: First Letter Of Last Name è F and Autore is Faletra, Flavio  [Clear All Filters]
2018
Minute M, Ventura G, Giorgi R, Faletra F, Costa P, Cozzi G. Afebrile seizures in infants: Never forget magnesium!. J Paediatr Child Health 2018;54(4):446-448.
2017
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;
2016
Quadrifoglio M, Faletra F, Bussani R, Pecile V, Zennaro F, Grasso A, Zandonà L, Alberico S, Stampalija T. A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. J Ultrasound Med 2016;35(6):1359-61.
2015
Lougaris V, Faletra F, Lanzi G, Vozzi D, Marcuzzi A, Valencic E, Piscianz E, Bianco AM, Girardelli M, Baronio M, Loganes C, Fasth A, Salvini F, Trizzino A, Moratto D, Facchetti F, Giliani S, Plebani A, Tommasini A. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. Clin Immunol 2015;159(1):33-6.
Gortani G, Faletra F, Bruno I, Berti I, Ventura A. "Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis. J Pediatr 2015;166(2):490-90.e1.
Naviglio S, Bruno I, Zanus C, Faletra F, Ventura A. A brain and heart connection: X-linked periventricular heterotopia. J Pediatr 2015;166(3):776.
d'Apolito M, Pisanelli D, Faletra F, Giardino I, Gigante M, Pettoello-Mantovani M, Goulet O, Gasparini P, Campanozzi A. Genetic analysis of Italian patients with congenital tufting enteropathy. World J Pediatr 2015;
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.
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.
2014
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.
Pavan M, Gortani G, Rubinato E, Faletra F, Pastore S, Ventura A. A girl with photosensitivity and hepatic steatosis. J Pediatr 2014;165(1):201-201.e1.
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.

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