共 50 条
- [41] Clinical utility gene card for: Beckwith–Wiedemann Syndrome European Journal of Human Genetics, 2014, 22 : 435 - 435
- [43] Clinical utility gene card for: Zellweger syndrome spectrum European Journal of Human Genetics, 2015, 23 : 1111 - 1111
- [44] Clinical utility gene card for: Lesch–Nyhan syndrome European Journal of Human Genetics, 2011, 19 : 2 - 3
- [45] Clinical utility gene card for: Johanson–Blizzard syndrome European Journal of Human Genetics, 2014, 22 : 152 - 152
- [48] Clinical utility gene card for: 3M syndrome European Journal of Human Genetics, 2011, 19 : 1017 - 1017
- [49] Clinical utility gene card for: Gorlin Syndrome - update 2013 European Journal of Human Genetics, 2013, 21 : 1187 - 1187
- [50] Clinical utility gene card for: renal coloboma (Papillorenal) syndrome European Journal of Human Genetics, 2011, 19 : 1017 - 1017