Browsing Fen Edebiyat Fakültesi by Department "Fen-Edebiyat Fakültesi, Moleküler Biyoloji ve Genetik Bölümü"
Now showing items 1-3 of 3
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L (SIMTI Servizi, 2017)Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ...
Lack of association of plasma factor XI with bleeding and report of two novel factor VII mutations (Pergamon-Elsevier Science, 2016)7th International Eurasian Hematology Congress
(John Libbey Eurotext, 2017)The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, ...