| 1 |
Evaluating the performance of four assays for carrier screening of spinal muscular atrophy |
|
| | Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping Hu | | | Clinica Chimica Acta. 2023; : 117496 | | | [Pubmed] [Google Scholar] [DOI] | | | 2 |
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy |
|
| | Chianru Tan, Yousheng Yan, Na Guo, Fang Wang, Songtao Wang, Lingxiang Zhu, Yipeng Wang, Yinan Ma, Yong Guo | | | Analytical Chemistry. 2022; | | | [Pubmed] [Google Scholar] [DOI] | | | 3 |
Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy |
|
| | Bijaylaxmi Behera, Ajay Kumar | | | Indian Pediatrics. 2020; 57(12): 1191 | | | [Pubmed] [Google Scholar] [DOI] | | | 4 |
Recent progress in the genetics of motor neuron disease |
|
| | Finsterer, J., Burgunder, J.-M. | | | European Journal of Medical Genetics. 2014; 57(2-3): 103-112 | | | [Pubmed] [Google Scholar] | |
|
