Hasil Pencarian - Guoying Chang

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  1. 1
    Obesity-Related Ciliopathies: Focus on Advances of Biomarkers

    Obesity-Related Ciliopathies: Focus on Advances of Biomarkers oleh Qianwen Zhang, Yiguo Huang, Shiyang Gao, Yu Ding, Hao Zhang, Guoying Chang, Xiumin Wang

    Diterbitkan 2024-08-01
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  2. 2
    A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

    A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report oleh Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang

    Diterbitkan 2021-08-01
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  3. 3
    A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth

    A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth oleh Biyun Feng, Guoying Chang, Qianwen Zhang, Xin Li, Yijun Tang, Shili Gu, Yirou Wang, Jian Wang, Xiumin Wang

    Diterbitkan 2022-06-01
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  4. 4
    Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children

    Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children oleh Guoying Chang, Qun Li, Niu Li, Guoqiang Li, Juan Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang

    Diterbitkan 2022-03-01
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  5. 5
    Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China

    Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China oleh Qianwen Zhang, Guoying Chang, Yijun Tang, Shili Gu, Yu Ding, Yao Chen, Yirou Wang, Shijian Liu, Jian Wang, Xiumin Wang

    Diterbitkan 2023-03-01
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  6. 6
    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report oleh Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao

    Diterbitkan 2021-08-01
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  7. 7
    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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  8. 8
    Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

    Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency oleh Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang

    Diterbitkan 2017-04-01
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  9. 9
    Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia

    Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia oleh Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wang

    Diterbitkan 2024-01-01
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  10. 10
    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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  11. 11
    Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients

    Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients oleh Qianwen Zhang, Yu Ding, Biyun Feng, Yijun Tang, Yao Chen, Yirou Wang, Guoying Chang, Shijian Liu, Jian Wang, Qian Li, Qian Li, Lijun Fu, Xiumin Wang, Xiumin Wang

    Diterbitkan 2022-02-01
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  12. 12
    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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  13. 13
    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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  14. 14
    Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesResearch in context

    Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital... oleh Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang

    Diterbitkan 2024-01-01
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