Hasil Pencarian - Xuyun Hu

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  1. 1
    Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

    Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders oleh Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao

    Diterbitkan 2020-06-01
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  2. 2
    Novel pathogenic variants in KIT gene in three Chinese piebaldism patients

    Novel pathogenic variants in KIT gene in three Chinese piebaldism patients oleh Chen Wang, Yingzi Zhang, Xuyun Hu, Lijuan Wang, Zhe Xu, Huan Xing

    Diterbitkan 2022-11-01
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  3. 3
    MiR-27b Impairs Adipocyte Differentiation of Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting LPL

    MiR-27b Impairs Adipocyte Differentiation of Human Adipose Tissue-Derived Mesenchymal Stem Cells by Targeting LPL oleh Xumin Hu, Jianhua Tang, Xuyun Hu, Peng Bao, Jinxin Pan, Zhipeng Chen, Jiaqi Xian

    Diterbitkan 2018-05-01
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  4. 4
    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review oleh Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao

    Diterbitkan 2023-10-01
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  5. 5
    A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

    A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency oleh Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao

    Diterbitkan 2019-12-01
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  6. 6
    Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

    Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency oleh Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu

    Diterbitkan 2019-06-01
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  7. 7
    A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

    A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy oleh Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li

    Diterbitkan 2019-08-01
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  8. 8
    Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

    Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy oleh Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

    Diterbitkan 2020-03-01
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  9. 9
    Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

    Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4 oleh Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao

    Diterbitkan 2021-09-01
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  10. 10
    Retraction Notice to: Silencing of Long Non-coding RNA HOTTIP Reduces Inflammation in Rheumatoid Arthritis by Demethylation of SFRP1

    Retraction Notice to: Silencing of Long Non-coding RNA HOTTIP Reduces Inflammation in Rheumatoid Arthritis by Demethylation of SFRP1 oleh Xumin Hu, Jianhua Tang, Xuyun Hu, Peng Bao, Weixi Deng, Jionglin Wu, Yuwei Liang, Zhipeng Chen, Liangbin Gao, Yong Tang

    Diterbitkan 2022-06-01
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  11. 11
    The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

    The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy oleh Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen

    Diterbitkan 2020-12-01
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  12. 12
    Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

    Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism oleh Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen

    Diterbitkan 2016-02-01
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  13. 13
    The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

    The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH oleh Chunyun Fu, Shiyu Luo, Yingfeng Li, Qifei Li, Xuehua Hu, Mengting Li, Yue Zhang, Jiasun Su, Xuyun Hu, Yun Chen, Jin Wang, Bobo Xie, Jingsi Luo, Xin Fan, Shaoke Chen, Yiping Shen

    Diterbitkan 2017-11-01
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  14. 14
    Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

    Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China oleh Yingchao Liu, Yingchao Liu, Chanjuan Hao, Kechun Li, Kechun Li, Xuyun Hu, Hengmiao Gao, Hengmiao Gao, Jiansheng Zeng, Jiansheng Zeng, Ruolan Guo, Jun Liu, Jun Guo, Zheng Li, Zheng Li, Zhan Qi, Xinlei Jia, Xinlei Jia, Wei Li, Suyun Qian, Suyun Qian

    Diterbitkan 2021-09-01
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