Hasil Pencarian - Jinqing Song

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  1. 1
    Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

    Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy oleh Lulu Kang, Yi Liu, Ying Jin, Mengqiu Li, Jinqing Song, Yi Zhang, Yao Zhang, Yanling Yang

    Diterbitkan 2020-01-01
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  2. 2
    Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

    Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population oleh Wenying Wang, Yi Liu, Lulu Kang, Ruxuan He, Jinqing Song, Yanhan Li, Jun Li, Yanling Yang

    Diterbitkan 2019-08-01
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  3. 3
    The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases

    The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases oleh Yi Liu, Xue Ma, Lulu Kang, Ying Jin, Mengqiu Li, Jinqing Song, Haixia Li, Yongtong Cao, Yanling Yang

    Diterbitkan 2024-06-01
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  4. 4
    Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

    Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study oleh Jinqing Song, Chunyan Tao, Guozhen Chen, Guozhen Chen, Selena Chen, Wenrui Xu, Junbao Du, Yanling Yang, Yaqian Huang

    Diterbitkan 2020-03-01
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  5. 5
    Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

    Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency oleh Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang, Yanling Yang

    Diterbitkan 2024-06-01
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  6. 6
    Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency

    Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency oleh Hui Dong, Tian Sang, Xue Ma, Jinqing Song, Zhehui Chen, Huiting Zhang, Ying Jin, Mengqiu Li, Dingding Dong, Liying Sun, Zhijun Zhu, Yao Zhang, Yanling Yang

    Diterbitkan 2024-08-01
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  7. 7
    Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

    Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital oleh Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang

    Diterbitkan 2022-03-01
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  8. 8
    Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

    Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods oleh Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

    Diterbitkan 2024-04-01
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  9. 9
    Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

    Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment oleh Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang

    Diterbitkan 2022-09-01
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  10. 10
    Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.

    Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria. oleh Yupeng Liu, Zhehui Chen, Lulu Kang, Ruxuan He, Jinqing Song, Yi Liu, Chunyan Shi, Junya Chen, Hui Dong, Yao Zhang, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

    Diterbitkan 2022-01-01
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  11. 11
    Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

    Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases oleh Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang

    Diterbitkan 2020-08-01
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