Showing 1 - 8 results of 8 for search 'Ru-en Yao', query time: 0.04s Refine Results
  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 by 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

    Published 2022-07-01
    Get full text
    Article
  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 by Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang

    Published 2021-11-01
    Get full text
    Article
  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 by Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang

    Published 2023-09-01
    Get full text
    Article
  4. 4
    Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

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

    Published 2024-04-01
    Get full text
    Article
  5. 5
    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 by 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

    Published 2023-03-01
    Get full text
    Article
  6. 6
    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients by 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

    Published 2023-09-01
    Get full text
    Article
  7. 7
    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 by 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

    Published 2013-09-01
    Get full text
    Article
  8. 8
    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 by 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

    Published 2018-10-01
    Get full text
    Article

Search Tools: