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Autore Titolo Tipo [ Anno] Filtri: Autore è De Rocco, Daniela [Clear All Filters]
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.
. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
. Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta 2014;1842(7):1052-8.
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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011;96(3):417-23.
. . . A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur J Med Genet 2010;53(5):256-60.
. MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.
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