Showing 1 - 5 results of 5 for search 'Shuhong Zeng', query time: 0.02s
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Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review by Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen
Published 2023-03-01
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Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview by Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie, Gaoxiong Wang
Published 2022-07-01
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A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures by Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Published 2023-01-01
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Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing by Jianlong Zhuang, Chunnuan Chen, Yu'e Chen, Qi Luo, Yuanbai Wang, Yuying Jiang, Shuhong Zeng, Yingjun Xie, Yingjun Xie, Dongmei Chen
Published 2022-04-01
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