Search Results - Niu Li

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  1. 1
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    Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus by Guoqiang Li, Yiyao Chen, Xu Han, Niu Li, Shuyuan Li

    Published 2024
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  2. 2
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    Psychomotor development and attention problems caused by a splicing variant of CNKSR2 by Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao

    Published 2020
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  3. 3
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    A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature by Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang

    Published 2020
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    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report by Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao

    Published 2021
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