يعرض 1 - 10 نتائج من 355 نتيجة بحث عن '"Qiu Wenjuan"', وقت الاستعلام: 1.20s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

    المؤلفون: Ling, Shiying, Wu, Shengnan, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Wei, Haiyan, Yang, Chiju, Xu, Peng, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Zhang, Huiwen, Liang, Lili, Wang, Yu, Chen, Ting, Xu, Feng, Gu, Xuefan, Han, LianshuAff1, IDs40246024006460_cor19

    المصدر: Human Genomics. 18(1)

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  2. 2
    دورية أكاديمية
    Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

    المؤلفون: Du, Taozi, Xia, Yu, Sun, Chengkai, Gong, Zhuwen, Liang, Lili, Gong, Zizhen, Wang, Ruifang, Lu, Deyun, Zhang, Kaichuang, Yang, Yi, Sun, Yuning, Sun, Manqing, Sun, YuAff1, Aff2, Xiao, BingAff1, Aff2, IDs13023024030708_cor14, Qiu, WenjuanAff1, IDs13023024030708_cor15

    المصدر: Orphanet Journal of Rare Diseases. 19(1)

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  3. 3
    دورية أكاديمية
    Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders

    المؤلفون: Xiao, Bing, Dai, Weiqian, Zhan, Yongkun, Qiu, Wenjuan, Zhang, Huiwen, Liu, DanPing, Xu, Na, Yu, Yongguo

    المصدر: In Genetics in Medicine August 2024 26(8)

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  4. 4
    دورية أكاديمية
    Late-onset cblC defect: clinical, biochemical and molecular analysis

    المؤلفون: Ding, Si, Ling, Shiying, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Chen, Ting, Zhan, Xia, Xu, Feng, Gu, Xuefan, Han, LianshuAff1, IDs13023023028904_cor10

    المصدر: Orphanet Journal of Rare Diseases. 18(1)

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  5. 5
    دورية أكاديمية
    Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

    المؤلفون: Zheng, Wanqi, Duan, Ying, Xia, Yu, Liang, Lili, Gong, Zhuwen, Wang, Ruifang, Lu, Deyun, Zhang, Kaichuang, Yang, Yi, Sun, Yuning, Zhang, Huiwen, Han, Lianshu, Gong, Zizhen, Xiao, BingAff1, IDs1302302302737y_cor14, Qiu, WenjuanAff1, IDs1302302302737y_cor15

    المصدر: Orphanet Journal of Rare Diseases. 18(1)

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  6. 6
    دورية أكاديمية
    Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

    المؤلفون: Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, LianshuAff1, IDs1302302302656y_cor10

    المصدر: Orphanet Journal of Rare Diseases. 18(1)

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  7. 7
    دورية أكاديمية
    Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report

    المؤلفون: Hao, Lili, Liang, Lili, Gao, Xiaolan, Zhan, Xia, Ji, Wenjun, Chen, Ting, Xu, Feng, Qiu, Wenjuan, Zhang, Huiwen, Gu, Xuefan, Han, Lianshu

    المصدر: In Molecular Genetics and Metabolism January 2024 141(1)

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  8. 8
    دورية أكاديمية
    A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations

    المؤلفون: Dai, WeiqianAff1, Aff2, Sun, YuAff1, Aff2, Fan, YanjieAff1, Aff2, Gao, YanAff1, Aff2, Zhan, YongkunAff1, Aff2, Wang, LiliAff1, Aff2, Xiao, BingAff1, Aff2, Qiu, WenjuanAff1, Aff2, Gu, XuefanAff1, Aff2, Sun, KunAff3, IDs41431022012174_cor10, Yu, YongguoAff1, Aff2, IDs41431022012174_cor11, Xu, NaAff1, Aff2, IDs41431022012174_cor12

    المصدر: European Journal of Human Genetics. 31(1):112-121

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  9. 9
    دورية أكاديمية
    Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

    المؤلفون: Zhang Huiwen, Wang Yu, Gong Zhuwen, Li Xiaoyan, Qiu Wenjuan, Han Lianshu, Ye Jun, Gu Xuefan

    المصدر: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 15 (2013)

    مصطلحات موضوعية: Medicine

    وصف الملف: electronic resource

    Relation: http://www.ojrd.com/content/8/1/15; https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/3e60c9cb17cb4585b18aafe047dd2891

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  10. 10
    دورية أكاديمية
    Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency

    المؤلفون: Xia, Yu, Zheng, Wanqi, Du, Taozi, Gong, Zizhen, Liang, Lili, Wang, Ruifang, Yang, Yi, Zhang, Kaichuang, Lu, Deyun, Chen, Xiaohong, Sun, Yuning, Sun, Yu, Xiao, Bing, Qiu, Wenjuan

    المصدر: In Journal of Clinical Lipidology November-December 2023 17(6):808-817

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