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2012
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
Maso G, Businelli C, Piccoli M, Montico M, De Seta F, Sartore A, Alberico S. The clinical interpretation and significance of electronic fetal heart rate patterns 2 h before delivery: an institutional observational study. Arch Gynecol Obstet 2012;286(5):1153-9.
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.
Norbedo S, Perini R, Amaddeo A. A coughing spine. Emerg Med J 2012;29(1):14.
Fabretto A, Rocca MSanta, Perrone MDolores, Skabar A, Pecile V, Gasparini P. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
Fabretto A, Rocca MSanta, Perrone MDolores, Skabar A, Pecile V, Gasparini P. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.
Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.
Zanin V, Segat L, Bianco AMonica, Padovan L, Tavares Nde Alencar, Crovella S. DEFB1 gene 5' untranslated region (UTR) polymorphisms in inflammatory bowel diseases. Clinics (Sao Paulo) 2012;67(4):395-8.
Faletra F, d'Adamo APio, Rocca MSanta, Carrozzi M, Perrone MDolores, Pecile V, Gasparini P. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
Faletra F, d'Adamo APio, Rocca MSanta, Carrozzi M, Perrone MDolores, Pecile V, Gasparini P. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.

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