
Conferences \ European Lab Automation 2013 \ Next-Gen Sequencing \ Agenda \ Gijs van Haaften |
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The Genetics of Orphan DiseasesThursday, 6 June 2013 at 15:00 ![]() In this presentation I will present different approaches that I apply in my lab to identify the genetic basis of several orphan diseases, for example we recently identified autosomal dominant mutations in a K-ATP channel to cause Cantu syndrome. |