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The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia 1-gen-2005 Monaldini, L; Asselta, R; Malcovati, M; Tenchini, Ml; Duga, S
A novel fibrinogen gamma chain mutation (gamma 239 Gln-->His) is the cause of dysfibrinogenemia Vicenza 1-gen-2005 Castaman, G; Ghiotto, R; Duga, S; Rodeghiero, F
Inherited defects of coagulation factor V: the hemorrhagic side 1-gen-2006 Asselta, R; Tenchini, Ml; Duga, S
The molecular basis of quantitative fibrinogen disorders 1-gen-2006 Asselta, R; Duga, S; Tenchini, Ml
Characterization of productive and unproductive mRNA splicings in F11: identification of a novel coagulation FXI isoform 1-gen-2006 Asselta, R; Guella, I; Rimoldi, V; Malcovati, M; Tenchini, Ml; Duga, S
Attivazione di uno pseudoesone nel gene per la catena gamma del fibrinogeno umano come nuovo meccanismo responsabile di afibrinogenemia congenita 1-gen-2006 Spena, S; Asselta, R; Platè, M; Castaman, G; Malcovati, M; Duga, S; Tenchini, Ml
Identification of two novel missense mutations causing factor XI deficiency 1-gen-2006 Duga, S; Asselta, R; Spena, S; Tagliaferri, A; Malcovati, M; Tenchini, Ml; Castaman, G
Two novel homozygous mutations in the fibrinogen genes identified in two Iranian afibrinogenemic patients 1-gen-2006 Monaldini, L; Duga, S; Asselta, R; Peyvandi, F; Karimi, M; Malcovati, M; Tenchini, Ml
Molecular characterization of three novel splicing mutations causing severe factor V deficiency 1-gen-2006 Asselta, R; Dall’Osso, C; Duga, S; Peyvandi, F; Malcovati, M; Tenchini, Ml
Identificazione e caratterizzazione del pattern di splicing alternativi del gene f11 e di una nuova isoforma di FXI della coagulazione 1-gen-2006 Asselta, Rosanna; Rimoldi, V; Guella, I; Malcovati, M; Tenchini, Ml; Duga, Stefano
Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene causing afibrinogenemia 1-gen-2006 Asselta, R; Platè, M; Santagostino, E; Malcovati, M; Tenchini, Ml; Duga, S
Identification of six novel mutations causing coagulation factor V deficiency 1-gen-2006 Dall’Osso, C; Asselta, R; Duga, S; Locatelli, N; Peyvandi, F; Skurzak, S; Malcovati, M; Tenchini, Ml
Identificazione e caratterizzazione di tre nuove mutazioni di splicing responsabili di carenza grave di fattore V della coagulazione 1-gen-2006 Dall’Osso, C; Asselta, R; Duga, S; Locatelli, N; Malcovati, M; Tenchini, M
Identification of the first missense mutation in the fibrinogen Aalpha-chain gene in a case of afibrinogenemia 1-gen-2006 Asselta, R; Platè, M; Santagostino, E; Malcovati, M; Tenchini, Ml.; Duga, S
Severe factor V deficiency: identification and molecular characterization of three novel splicing mutations 1-gen-2006 Asselta, R; Dall’Osso, C; Duga, S; Locatelli, N; Malcovati, M; Tenchini, Ml
Congenital afibrinogenemia: two novel fibrinogen gene mutations identified in two patients from Iran 1-gen-2006 Monaldini, L; Asselta, R; Duga, S; Peyvandi, F; Malcovati, M; Tenchini, Ml
Screening delle mutazioni tipo IIe III nel gene per il FXI della coagulazione negli italiani mediante 4-colour multiplex real-time PCR 1-gen-2006 Zadra, G; Asselta, R; Tenchini, Ml; Castaman, G; Duga, S
Congenital afibrinogenemia: molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene 1-gen-2006 Asselta, R; Platè, M; Santagostino, E; Malcovati, M; Tenchini, Ml; Duga, S
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene 1-gen-2006 Monaldini, L; Asselta, R; Duga, S; Peyvandi, F; Ghosh, K; Malcovati, M; Tenchini, Ml
Genetic diagnosis of haemophilia and other inherited bleeding disorders 1-gen-2006 Peyvandi, F; Jayandharan, G; Chandy, M; Srivastava, A; Nakaya, Sm; Johnson, Mj; Thompson, Ar; Goodeve, A; Garagiola, I; Lavoretano, S; Menegatti, M; Palla, R; Spreafico, M; Tagliabue, L; Asselta, R; Duga, S; Mannucci, Pm
Mostrati risultati da 101 a 120 di 300
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