Hasil Pencarian - Shaoke Chen

  • Menampilkan 1 - 19 hasil dari 19
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  1. 1
    Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

    Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family oleh Xianda Wei, Guori Huang, Baoheng Gui, Bobo Xie, Shaoke Chen, Xin Fan, Yujun Chen

    Diterbitkan 2022-04-01
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  2. 2
    U-shaped relationship between birth weight and childhood blood pressure in China

    U-shaped relationship between birth weight and childhood blood pressure in China oleh Chong Lai, Yiyan Hu, Di He, Li Liang, Feng Xiong, Geli Liu, Chunxiu Gong, Feihong Luo, Shaoke Chen, Chunlin Wang, Yimin Zhu

    Diterbitkan 2019-07-01
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  3. 3
    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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  4. 4
    Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome

    Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome oleh Meizhen Shi, Meizhen Shi, Yuying Liang, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Haiyang Zheng, Haiyang Zheng, Chunrong Gui, Chunrong Gui, Rong Huang, Rong Huang, Xin Fan, Xin Fan, Chuan Li, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Shaoke Chen, Yujun Chen, Yujun Chen, Baoheng Gui, Baoheng Gui

    Diterbitkan 2022-11-01
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  5. 5
    Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

    Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China oleh Xin Fan MD, Shaoke Chen MD, Jiale Qian MD, Suren Sooranna PhD, Jingi Luo MD, Chuan Li MD, Qin Tang MD, Caijuan Lin MD

    Diterbitkan 2015-01-01
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  6. 6
    Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study

    Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study oleh Xiu Zhao, Xiu Zhao, Yanning Song, Shaoke Chen, Xiumin Wang, Feihong Luo, Yu Yang, Linqi Chen, Ruimin Chen, Hui Chen, Zhe Su, Di Wu, Chunxiu Gong

    Diterbitkan 2019-03-01
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  7. 7
    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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  8. 8
    Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature

    Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature oleh Baoheng Gui, Baoheng Gui, Baoheng Gui, Chenxi Yu, Chenxi Yu, Xiaoxin Li, Sen Zhao, Sen Zhao, Hengqiang Zhao, Hengqiang Zhao, Zihui Yan, Zihui Yan, Xi Cheng, Xi Cheng, Jiachen Lin, Jiachen Lin, Haiyang Zheng, Haiyang Zheng, Haiyang Zheng, Jiashen Shao, Jiashen Shao, Zhengye Zhao, Zhengye Zhao, Lina Zhao, Yuchen Niu, Zhi Zhao, Huizi Wang, Bobo Xie, Bobo Xie, Bobo Xie, Xianda Wei, Xianda Wei, Chunrong Gui, Chunrong Gui, Chuan Li, Chuan Li, Chuan Li, Shaoke Chen, Shaoke Chen, Shaoke Chen, Yi Wang, Yanning Song, Chunxiu Gong, Terry Jianguo Zhang, Terry Jianguo Zhang, Terry Jianguo Zhang, Terry Jianguo Zhang

    Diterbitkan 2021-04-01
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  9. 9
    The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping

    The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping oleh Yunting Ma, Chunrong Gui, Meizhen Shi, Lilin Wei, Junfang He, Bobo Xie, Haiyang Zheng, Xiaoyun Lei, Xianda Wei, Zifeng Cheng, Xu Zhou, Shaoke Chen, Jiefeng Luo, Yan Huang, Baoheng Gui

    Diterbitkan 2024-09-01
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  10. 10
    Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

    Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome oleh Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen

    Diterbitkan 2019-06-01
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  11. 11
    The effects of genetic variation in FTO rs9939609 on obesity and dietary preferences in Chinese Han children and adolescents.

    The effects of genetic variation in FTO rs9939609 on obesity and dietary preferences in Chinese Han children and adolescents. oleh Min Yang, Yuyang Xu, Li Liang, Junfen Fu, Feng Xiong, Geli Liu, Chunxiu Gong, Feihong Luo, Shaoke Chen, Chunxiao Xu, Dandan Zhang, Zhengli Li, Shuai Zhang, Yan Zhang, Hao Wang, Yimin Zhu

    Diterbitkan 2014-01-01
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  12. 12
    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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  13. 13
    Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

    Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency oleh Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen

    Diterbitkan 2018-09-01
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  14. 14
    Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

    Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients oleh Chenxi Yu, Chenxi Yu, Chenxi Yu, Bobo Xie, Bobo Xie, Bobo Xie, Zhengye Zhao, Zhengye Zhao, Sen Zhao, Sen Zhao, Lian Liu, Lian Liu, Xi Cheng, Xi Cheng, Xiaoxin Li, Xiaoxin Li, Bingyan Cao, Jiashen Shao, Jiashen Shao, Jiajia Chen, Hengqiang Zhao, Hengqiang Zhao, Zihui Yan, Zihui Yan, Chang Su, Yuchen Niu, Yuchen Niu, Yanning Song, Liya Wei, Yi Wang, Xiaoya Ren, Lijun Fan, Beibei Zhang, Chuan Li, Chuan Li, Chuan Li, Baoheng Gui, Baoheng Gui, Baoheng Gui, Yuanqiang Zhang, Lianlei Wang, Shaoke Chen, Shaoke Chen, Shaoke Chen, Jianguo Zhang, Jianguo Zhang, Jianguo Zhang, Zhihong Wu, Zhihong Wu, Zhihong Wu, Zhihong Wu, Chunxiu Gong, Xin Fan, Xin Fan, Xin Fan, Nan Wu, Nan Wu, Nan Wu, Nan Wu

    Diterbitkan 2021-09-01
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  15. 15
    Delineation of dual molecular diagnosis in patients with skeletal deformity

    Delineation of dual molecular diagnosis in patients with skeletal deformity oleh Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Guixing Qiu, Terry Jianguo Zhang, Nan Wu

    Diterbitkan 2022-03-01
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  16. 16
    Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children

    Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children oleh Ke Huang, Shuting Si, Shuting Si, Ruimin Chen, Chunlin Wang, Shaoke Chen, Yan Liang, Hui Yao, Rongxiu Zheng, Fang Liu, Binyan Cao, Zhe Su, Maimaiti Mireguli, Feihong Luo, Pin Li, Hongwei Du, Min Zhu, Yu Yang, Lanwei Cui, Yunxian Yu, Yunxian Yu, Junfen Fu

    Diterbitkan 2021-04-01
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  17. 17
    Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study

    Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study oleh Jiajia Chen, Yan Zhong, Haiyan Wei, Shaoke Chen, Zhe Su, Lijun Liu, Liyang Liang, Ping Lu, Linqi Chen, Ruimin Chen, Shining Ni, Xinli Wang, Li Li, Yunfeng Wang, Xu Xu, Yanfeng Xiao, Hui Yao, Geli Liu, Runming Jin, Bingyan Cao, Di Wu, Chang Su, Wenjing Li, Miao Qin, Xiaoqiao Li, Xiaoping Luo, Chunxiu Gong

    Diterbitkan 2022-08-01
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  18. 18
    A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children

    A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children oleh Ling Hou, Xiuzhen Li, Li Liu, Hanyang Wei, Feng Xiong, Hongwei Du, Yu Yang, Huifeng Zhang, Qin Zhang, Hui Yao, Junfen Fu, Xiaoli Yan, Lanwei Cui, Geli Liu, Tang Li, Shaoke Chen, Pin Li, Ying Xin, Xiangrong Liang, Baosheng Yu, Zhiya Dong, Ruimin Chen, Huamei Ma, Xinran Cheng, Feihong Luo, Chunxiu Gong, Wenhui Song, Xiaobo Chen, Zhixin Zhang, Xiangyun Peng, Guimei Li, Liyang Liang, Mireguli Maimaiti, Pik To Cheung, Xiaoping Luo

    Diterbitkan 2021-06-01
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  19. 19
    Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

    Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies oleh Xuan Shang, Zhiyu Peng, Yuhua Ye, Asan, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xiaolin Yin, Liusong Wu, Jing He, Dongai Huang, Sheng He, Tizhen Yan, Xin Fan, Yuehong Zhou, Xiaofeng Wei, Sumin Zhao, Decheng Cai, Fengyu Guo, Qianqian Zhang, Yun Li, Xuelian Zhang, Haorong Lu, Huajie Huang, Junfu Guo, Fei Zhu, Yuan Yuan, Li Zhang, Na Liu, Zhiming Li, Hui Jiang, Qiang Zhang, Yijia Zhang, Wan Khairunnisa Wan Juhari, Sarifah Hanafi, Wanjun Zhou, Fu Xiong, Huanming Yang, Jian Wang, Bin Alwi Zilfalil, Ming Qi, Yaping Yang, Ye Yin, Mao Mao, Xiangmin Xu

    Diterbitkan 2017-09-01
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