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S
Savoia A, De Rocco D, Pecci A. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312-315.
Savoia A, Germeshausen M, De Rocco D, Henschel B, Kratz CP, Kuhlen M, Rath B, Steuhl K-P, Wermes C, Ballmaier M. MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.
Sandrin-Garcia P, Brandão LAndré Cav, Coelho AVictor Cam, Guimarães RLima, Pancoto JAlexandre, Segat L, Donadi EAntônio, de Lima-Filho JLuiz, Crovella S. Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians. Hum Immunol 2011;72(6):516-21.
R
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MTeresa, Melis D, Manfredini E, Ferrero GBattista, Pecile V, Larizza L. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin Epigenetics 2016;8:23.
Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A. Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. J Nephrol 2010;23(6):667-76.
Ricci G, Zito G, Fischer-Tamaro L. Management of the adnexal mass. Obstet Gynecol 2011;118(4):956; author reply 956-7.
Rabach I, Salis S, Bruno I, Ventura A. Macrocephaly and palmoplantar pitting. Arch Dis Child 2016;
P
Puzelli S, Facchini M, De Marco MA, Palmieri A, Spagnolo D, Boros S, Corcioli F, Trotta D, Bagnarelli P, Azzi A, Cassone A, Rezza G, Pompa MG, Oleari F, Donatelli I. Molecular surveillance of pandemic influenza A(H1N1) viruses circulating in Italy from May 2009 to February 2010: association between haemagglutinin mutations and clinical outcome. Euro Surveill 2010;15(43)
Pontillo A, Vendramin A, Catamo E, Fabris A, Crovella S. The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease. Am J Gastroenterol 2011;106(3):539-44.
Poillucci G, Degrassi F, Guida E, Pederiva F. "Milky" bowel and malrotation. Surgery 2017;162(2):468-469.
Pivetta E, Maule MM, Pisani P, Zugna D, Haupt R, Jankovic M, Aricò M, Casale F, Clerico A, di Montezemolo LCordero, Kiren V, Locatelli F, Palumbo G, Pession A, Pillon M, Santoro N, Terenziani M, Valsecchi MGrazia, Dama E, Magnani C, Merletti F, Pastore G. Marriage and parenthood among childhood cancer survivors: a report from the Italian AIEOP Off-Therapy Registry. Haematologica 2011;96(5):744-51.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.

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