Hasil Pencarian - Baoheng Gui

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  1. 1
    Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

    Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders? oleh Baoheng Gui, Baoheng Gui, Jesse Slone, Taosheng Huang

    Diterbitkan 2017-11-01
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  2. 2
    Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

    Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review oleh Lixia Zhan, Lixia Zhan, Chunrong Gui, Chunrong Gui, Wei Wei, Wei Wei, Juliang Liu, Juliang Liu, Baoheng Gui, Baoheng Gui, Baoheng Gui

    Diterbitkan 2023-07-01
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  3. 3
    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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  4. 4
    Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

    Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review oleh Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui

    Diterbitkan 2023-12-01
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  5. 5
    Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A)

    Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A) oleh Queenie S.Y. Yeung, Ying Xin Zhang, Jacqueline P.W. Chung, Yvonne K.Y. Kwok, Baoheng Gui, Kwong Wai Choy, Tin Chiu Li

    Diterbitkan 2019-03-01
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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes

    Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes oleh Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui, Yujun Chen

    Diterbitkan 2024-05-01
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  10. 10
    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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