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2016
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KStano, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OMaria, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study. J Rheumatol 2016;43(6):1093-100.
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.
von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert A-K, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WFJ, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet 2016;17(1):35.
Zanella S, De Leo L, Nguyen-Ngoc-Quynh L, Nguyen-Duy B, Not T, Tran-Thi-Chi M, Phung-Duc S, Le-Thanh H, Malaventura C, Vatta S, Ziberna F, Mazzocco M, Volpato S, Phung-Tuyet L, Le-Thi-Minh H, Borgna-Pignatti C. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children. BMJ Open 2016;6(6):e011173.
Zanella S, De Leo L, Nguyen-Ngoc-Quynh L, Nguyen-Duy B, Not T, Tran-Thi-Chi M, Phung-Duc S, Le-Thanh H, Malaventura C, Vatta S, Ziberna F, Mazzocco M, Volpato S, Phung-Tuyet L, Le-Thi-Minh H, Borgna-Pignatti C. Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children. BMJ Open 2016;6(6):e011173.
Bibalo C, Longo G, Ventura A. Decline in Lung Function in Childhood Asthma. N Engl J Med 2016;375(7):e13.
Lucafò M, Bravin V, Tommasini A, Martelossi S, Rabach I, Ventura A, Decorti G, De Iudicibus S. Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance. Clin Exp Pharmacol Physiol 2016;43(6):602-5.
Sonego M, Sagrado MJosé, Escobar G, Lazzerini M, Rivas E, Martín-Cañavate R, de López EPérez, Ayala S, Castaneda L, Aparicio P, Custodio E. Dyslipidemia, Diet, and Physical Exercise in Children on Treatment with Anti-Retroviral Medication in El Salvador: A Cross-Sectional Study. Pediatr Infect Dis J 2016;
Rosati A, Ilvento L, L'Erario M, De Masi S, Biggeri A, Fabbro G, Bianchi R, Stoppa F, Fusco L, Pulitanò S, Battaglia D, Pettenazzo A, Sartori S, Biban P, Fontana E, Cesaroni E, Mora D, Costa P, Meleleo R, Vittorini R, Conio A, Wolfler A, Mastrangelo M, Mondardini MCristina, Franzoni E, McGreevy KS, Di Simone L, Pugi A, Mirabile L, Vigevano F, Guerrini R. Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01). BMJ Open 2016;6(6):e011565.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.
Byrne S, Jansen L, U-King-Im J-M, Siddiqui A, Lidov HGW, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Thihli KAl, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CMarques, Pilz DT, Kamath A, Prabhakar P, Rao VK, R Rogers C, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016;139(Pt 3):765-81.

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