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Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome by Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui
Published 2022-11-01
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Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study by Xiu Zhao, Zhe Su, Shaoke Chen, Xiumin Wang, Yu Yang, Linqi Chen, Li Liang, Geli Liu, Yi Wang, Yanning Song, Lijun Fan, Xiaoya Ren, Chunxiu Gong
Published 2022-05-01
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Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome by Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Published 2019-06-01
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Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency by Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen
Published 2018-09-01
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Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study by Jiajia Chen, Yan Zhong, Haiyan Wei, Shaoke Chen, Zhe Su, Lijun Liu, Liyang Liang, Ping Lu, Linqi Chen, Ruimin Chen, Shining Ni, Xinli Wang, Li Li, Yunfeng Wang, Xu Xu, Yanfeng Xiao, Hui Yao, Geli Liu, Runming Jin, Bingyan Cao, Di Wu, Chang Su, Wenjing Li, Miao Qin, Xiaoqiao Li, Xiaoping Luo, Chunxiu Gong
Published 2022-08-01
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