共 50 条
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- [26] Clinical utility gene card for: Phosphomannomutase 2 deficiency European Journal of Human Genetics, 2014, 22 : 1054 - 1054
- [27] Clinical utility gene card for: Phosphomannose isomerase deficiency European Journal of Human Genetics, 2014, 22 : 1153 - 1153
- [29] Clinical utility gene card for: Alport syndrome – update 2014 European Journal of Human Genetics, 2015, 23 : 1269 - 1269
- [30] Clinical utility gene card for: Joubert Syndrome - update 2013 European Journal of Human Genetics, 2013, 21 : 1187 - 1187