Trine Prescott

27.09.2016: Should healthy children be tested for genetic disease predisposition? Imagine the following scenario: A six year old girl is diagnosed with thrombocytopenia after an unusually severe nosebleed. As a newborn she had anaemia and hyperbilirubinemia, and an exchange transfusion was considered. Her three...

20.08.2013: Several rare congenital syndromes can soon be diagnosed more rapidly than before. New sequencing technology makes it possible to analyse a selection of, or all, our 22 000 genes simultaneously. We are on the brink of a shift in diagnostic paradigm. This issue of the Journal of the Norwegian Medical...