共 50 条
- [2] Clinical utility gene card for: Diamond Blackfan anemia European Journal of Human Genetics, 2011, 19 : 615 - 615
- [5] Clinical utility gene card for: Hypophosphatasia – update 2013 European Journal of Human Genetics, 2014, 22 : 572 - 572
- [6] Clinical utility gene card for: Achromatopsia - update 2013 European Journal of Human Genetics, 2013, 21 : 1 - 3
- [9] Clinical utility gene card for: Joubert Syndrome - update 2013 European Journal of Human Genetics, 2013, 21 : 1187 - 1187
- [10] Clinical utility gene card for: Gorlin Syndrome - update 2013 European Journal of Human Genetics, 2013, 21 : 1187 - 1187