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Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 1, 1993
A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosisD S Millar, C B Grundy, P Bignell, et al.
Molecular Psychiatry|May 30, 2012
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental diseaseC S Ku, C Polychronakos, E K Tan, et al.
Human Genetics|November 1, 1994
Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosisD S Millar, A I Wacey, J Ribando, et al.
British Journal of Haematology|June 1, 1993
Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocketG Marchetti, P Patracchini, D Gemmati, et al.
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