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2014
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
J DAzevêdo S, C A, P S-G, S C. Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations. Curr Genomics 2014;15(1):52-65.
Keller MF, Reiner AP, Okada Y, van Rooij FJA, Johnson AD, Chen M-H, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, Qayyum R, Yanek LR, Becker DM, Becker LC, Kooperberg C, Keating B, Reis J, Tang H, Boerwinkle E, Kamatani Y, Matsuda K, Kamatani N, Nakamura Y, Kubo M, Liu S, Dehghan A, Felix JF, Hofman A, Uitterlinden AG, van Duijn CM, Franco OH, Longo DL, Singleton AB, Psaty BM, Evans MK, L Cupples A, Rotter JI, O'Donnell CJ, Takahashi A, Wilson JG, Ganesh SK, Nalls MA. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet 2014;23(25):6944-60.
Mattioli C, Pianigiani G, De Rocco D, Bianco AMonica Ros, Cappelli E, Savoia A, Pagani F. Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta 2014;1842(7):1052-8.
Mattioli C, Pianigiani G, De Rocco D, Bianco AMonica Ros, Cappelli E, Savoia A, Pagani F. Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta 2014;1842(7):1052-8.
Singh P, Wadhwa N, Chaturvedi MK, Bhatia V, Saini S, Tandon N, Makharia GK, Maki M, Not T, Phillips A, Bhatnagar S. Validation of point-of-care testing for coeliac disease in children in a tertiary hospital in north India. Arch Dis Child 2014;99(11):1004-8.
De Cunto A, Paviotti G, Demarini S. When does postnatal catch-up fat occur in late preterm infants?. Acta Paediatr 2014;103(8):e325.
2013
Paloni G, Berti I, Cutrone M. Acropustulosis of infancy. Arch Dis Child Fetal Neonatal Ed 2013;98(4):F340.
Lazzerini M, Bramuzzo M, Martelossi S, Magazzù G, Pellegrino S, Ventura A. Amenorrhea in women treated with thalidomide: report of two cases and literature review. Inflamm Bowel Dis 2013;19(1):E10-1.
Schreiber S, Ronfani L, Chiaffoni GP, Matarazzo L, Minute M, Panontin E, Poropat F, Germani C, Barbi E. Does EMLA cream application interfere with the success of venipuncture or venous cannulation? A prospective multicenter observational study. Eur J Pediatr 2013;172(2):265-8.
Schreiber S, Ronfani L, Chiaffoni GP, Matarazzo L, Minute M, Panontin E, Poropat F, Germani C, Barbi E. Does EMLA cream application interfere with the success of venipuncture or venous cannulation? A prospective multicenter observational study. Eur J Pediatr 2013;172(2):265-8.
Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RPS, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JHua, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson Å, Murgia F, Wild SH, Bakker SJL, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GAndri, Grotevendt A, Gislason GKjartan, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR, Liu K, d'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KTee, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann H-E, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Leach IMateo, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MGrazia, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin S-Y, Spector TD, Sala C, Ridker PM, Kähönen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Völzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJF, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BHR, Chambers JC, März W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JCM, Sanna S, Schipf S, Dunlop MG, Tönjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WHLinda, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.

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