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Pensiero S, Cecchini P, Michieletto P, Pelizzo G, Madonia M, Parentin F. Congenital aplasia of the optic chiasm and esophageal atresia: a case report. J Med Case Rep 2011;5:335.
Porto AGiuseppe, Brun F, Severini GMaria, Losurdo P, Fabris E, Taylor MRG, Mestroni L, Sinagra G. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol 2016;9(1):e003121.
Q
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.
R
Ribes-Koninckx C, Mearin ML, Korponay-Szabó IR, Shamir R, Husby S, Ventura A, Branski D, Catassi C, Koletzko S, Mäki M, Troncone R, Zimmer KP. Coeliac disease diagnosis: ESPGHAN 1990 criteria or need for a change? Results of a questionnaire. J Pediatr Gastroenterol Nutr 2012;54(1):15-9.
Rocca MSanta, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2012;492(1):315-8.
Rossetto E, Matarazzo L, Maschio M, Taddio A, Costa P, Ventura A. A Child with Severe Developmental Delay and Growth Retardation. J Pediatr 2016;175:241-241.e1.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MCirillo, Sorasio L, Curtisova V, Cavaliere MLuigia, Prontera P, Stangoni G, Ferrero GBattista, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet 2015;134(6):613-26.
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Santarelli L, Staffolani S, Strafella E, Nocchi L, Manzella N, Grossi P, Bracci M, Pignotti E, Alleva R, Borghi B, Pompili C, Sabbatini A, Rubini C, Zuccatosta L, Bichisecchi E, Valentino M, Horwood K, Comar M, Bovenzi M, Dong L-F, Neuzil J, Amati M, Tomasetti M. Combined circulating epigenetic markers to improve mesothelin performance in the diagnosis of malignant mesothelioma. Lung Cancer 2015;
Santos EUbirajara, de Lima GDayane Cor, Oliveira Mde Lucena, Heráclio Sde Andrade, da Silva HDornelas A, Crovella S, Maia Mde Mascena, de Souza PRoberto El. CCR2 and CCR5 genes polymorphisms in women with cervical lesions from Pernambuco, Northeast Region of Brazil: a case-control study. Mem Inst Oswaldo Cruz 2016;111(3):174-80.
Santos Rde Luna Al, Crovella S, Celsi F. Comment to Santos et al., "hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype". Gene 2015;559(1):99-101.
Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011;96(3):417-23.
S Sopo M, Romano A, Bersani G, Fantacci C, Badina L, Longo G, Monti G, Viola S, Tripodi S, Barilaro G, Iacono ID, Caffarelli C, Mastrorilli C, Barni S, Mori F, Liotti L, Cuomo B, Franceschini F, Viggiano D, Monaco S. Cooking influence in tolerance acquisition in egg-induced acute food protein enterocolitis syndrome. Allergol Immunopathol (Madr) 2018;

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