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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Wang Y, Xu Y, Zhou C, Cheng Y, Qiao N, Shang Q, Xia L, Song J, Gao C, Qiao Y, Zhang X, Li M, Ma C, Fan Y, Peng X, Wu S, Lv N, Li B, Sun Y, Zhang B, Li T, Li H, Zhang J, Su Y, Li Q, Yuan J, Liu L, Moreno-De-Luca A, MacLennan AH, Gecz J, Zhu D, Wang X, Zhu C, Xing Q. Wang Y, et al. Among authors: shang q. Nat Med. 2024 May;30(5):1395-1405. doi: 10.1038/s41591-024-02912-z. Epub 2024 May 1. Nat Med. 2024. PMID: 38693247
[Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].
Li L, Luo S, Mei S, Shang Q, Zhang W, Zhang X, Liu L, Lei Z, Zhang Y. Li L, et al. Among authors: shang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1280-1283. doi: 10.3760/cma.j.cn511374-20221013-00685. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37730231 Chinese.
[Phenotypic and genetic analysis of a child with partial trisomy 7q].
Wang C, Li D, Zhang Y, Kong J, Li R, Gao C, Shang Q, Zhang H. Wang C, et al. Among authors: shang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):604-608. doi: 10.3760/cma.j.cn511374-20220415-00252. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102298 Chinese.
1,124 results