Clinical and molecular characterisation of rare genetic syndromes with unknown aetiology
This project aimed to clinically characterise phenotypes with unknown genetic aetiology and proceed with customised gene identification strategies in selected cases/families. A systematic analysis of 116 medical records of undiagnosed cases observed at the Medical Genetics Department of the Coimbra...
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University College London (University of London)
2014
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.626633 |