The challenge and promise of rare disease diagnosis in China

Author:

Ni Xin,Shi Tieliu

Publisher

Springer Science and Business Media LLC

Subject

General Agricultural and Biological Sciences,General Environmental Science,General Biochemistry, Genetics and Molecular Biology

Reference12 articles.

1. Bai, D.Y., Shi, W., Qi, Z., Li, W., Wei, A.H., Cui, Y.H, Li, C., and Li, L. (2017). Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Sci China Life Sci 60

2. Bai, D.Y., Zhao, J.Y., Li, L., Gao, J, and Wang, X. (2017). Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex. Sci China Life Sci 60

3. Cai, S., Wang, X.S., Wen, Z., Fu, L.B., Ma, X.L., and Peng, X.X. (2017). DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. Sci China Life Sci 60

4. Fang, F, Liu, Z.M., Fang, H.Z., Wu, J., Shen, D.M., Sun, S.Z., Ding, C.H., Han, T.L., Wu, Y., Lv, J.L., Yang, L., Li, S.F., Lv, J.X., and Shen, Y. (2017). The clinical and genetic characteristics in children with mitochondrial disease in China. Sci China Life Sci 60

5. Fu, L.B., Jin, Y.Q, Jia, C., Zhang, J., Tai, J., Li, H.B., Chen, F., Shi, J., Guo, Y.L., Ni, X., and He, L.J. (2017). Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma. Sci China Life Sci 60

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