Hasil Pencarian - Hai‐Lin Dong

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  1. 1
    A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

    A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease oleh Li-Xi Li, Hai-Lin Dong, Bao-Guo Xiao, Zhi-Ying Wu

    Diterbitkan 2017-01-01
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  2. 2
    Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

    Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy oleh Hai-Lin Dong, Jia-Qi Li, Gong-Lu Liu, Hao Yu, Zhi-Ying Wu

    Diterbitkan 2021-01-01
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  3. 3
    Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

    Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis oleh Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong, Wang Ni, Zhi-Ying Wu

    Diterbitkan 2019-12-01
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  4. 4
    A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

    A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia oleh Qiao Wei, Pei‐Shan Wang, Hai‐Lin Dong, Wen‐Jiao Luo, Zhi‐Ying Wu, Hong‐Fu Li

    Diterbitkan 2022-05-01
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  5. 5
    Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

    Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy oleh Wen‐Jiao Luo, Qiao Wei, Hai‐Lin Dong, Yang‐Tian Yan, Mei‐Jiao Chen, Hong‐Fu Li

    Diterbitkan 2020-01-01
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  6. 6
    Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

    Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias oleh Hao-Ling Cheng, Ya-Ru Shao, Yi Dong, Hai-Lin Dong, Lu Yang, Yin Ma, Ying Shen, Zhi-Ying Wu

    Diterbitkan 2021-10-01
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  7. 7
    A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

    A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report oleh Yan-Yan Xue, Hao-Ling Cheng, Hai-Lin Dong, Hou-Min Yin, Yun Yuan, Ling-Chao Meng, Zhi-Ying Wu, Hao Yu

    Diterbitkan 2021-10-01
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  8. 8
    Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

    Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease oleh Mei-Jiao Chen, Mei-Jiao Chen, Yi Zhang, Wen-Jiao Luo, Hai-Lin Dong, Qiao Wei, Juan Zhang, Juan Zhang, Qi-Qi Ruan, Wang Ni, Hong-Fu Li

    Diterbitkan 2022-08-01
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  9. 9
    Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

    Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia oleh Qiao Wei, Hai-Lin Dong, Li-Ying Pan, Cong-Xin Chen, Yang-Tian Yan, Rou-Min Wang, Hong-Fu Li, Zhi-Jun Liu, Qing-Qing Tao, Zhi-Ying Wu

    Diterbitkan 2019-06-01
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