Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"italian patients"”.
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… We performed the molecular analysis in 20 Italian patients and we detected the mutations in all the examined patients. Sixteen mutations out of twenty consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and four were missense mutations. The mutations …
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PATHOPHYSIOLOGY OF VON WILLEBRAND FACTOR IN BLEEDING AND THROMBOSIS
… This assay is able to discriminate type 2B VWD patients from the other type 2 VWD patients and it can be done using a small amount of frozen plasma sample. This led us to confirm that our patient was affected by type 2A VWD. In Chapters 3 and 4, we combined the use of predictive in silico tools …