Hasil Pencarian - Ru-en Yao

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  1. 1
    Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

    Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9 oleh Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Ru-En Yao, Ru-En Yao, Tingting Yu, Tingting Yu, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Jian Wang, Jian Wang, Niu Li, Niu Li, Niu Li

    Diterbitkan 2022-07-01
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  2. 2
    Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

    Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis oleh Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang

    Diterbitkan 2021-11-01
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  3. 3
    A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

    A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review oleh Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang

    Diterbitkan 2023-09-01
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  4. 4
    Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

    Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients oleh Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang

    Diterbitkan 2024-04-01
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  5. 5
    Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

    Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity. oleh Zhaojing Zheng, Li Hong, Xiaodong Huang, Peirong Yang, Juan Li, Yu Ding, Ru-En Yao, Juan Geng, Yongnian Shen, Yiping Shen, Qihua Fu, Yongguo Yu

    Diterbitkan 2013-01-01
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  6. 6
    Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

    Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants oleh Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-en Yao, Xin Li, Xiumin Wang

    Diterbitkan 2023-03-01
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  7. 7
    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients oleh Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang

    Diterbitkan 2023-09-01
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  8. 8
    Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

    Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia oleh Haiou Yang, Lili Wang, Juan Geng, Tingting Yu, Ru-en Yao, Yongnian Shen, Lei Yin, Daming Ying, Rongkui Huang, Yunfang Zhou, Huijin Chen, Lanbo Liu, Xi Mo, Yiping Shen, Qihua Fu, Yongguo Yu

    Diterbitkan 2013-09-01
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  9. 9
    Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

    Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients oleh Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang

    Diterbitkan 2018-10-01
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