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(BMJ, 2014-11-01)BACKGROUND: Inherited abnormalities of complement are found in approximately 60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated ...
Are we seeing the effects of public awareness campaigns? A 10-year analysis of Breslow thickness at presentation of malignant melanoma in the South West of England(Elsevier, 2014-03-01)INTRODUCTION: The last 20 years has seen a marked improvement in skin cancer awareness campaigns. We sought to establish whether this has affected the presenting Breslow thickness of malignant melanoma in the South West. ...
Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.(Springer, 2014-10)Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators ...