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- [2] Clinical utility gene card for: Biotinidase deficiency European Journal of Human Genetics, 2012, 20 : 4 - 4
- [6] Clinical utility gene card for: CHARGE syndrome - update 2015 European Journal of Human Genetics, 2015, 23 : 3 - 4
- [8] Clinical utility gene card for: acrodermatitis enteropathica – update 2015 European Journal of Human Genetics, 2016, 24 : 779 - 779
- [9] Clinical utility gene card for: Nemaline myopathy – update 2015 European Journal of Human Genetics, 2015, 23 : 4 - 5