Hasil Pencarian - Liang‐Liang Fan

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  1. 1
    A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly

    A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly oleh Tao Wang, Yu-Xing Liu, Fang-Mei Luo, Yi Dong, Ya-Li Li, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan

    Diterbitkan 2021-11-01
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  2. 2
    Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

    Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A oleh Fang-Mei Luo, Fang-Mei Luo, Ming-Xing Deng, Rong Yu, Lv Liu, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan

    Diterbitkan 2021-04-01
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  3. 3
    Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

    Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A oleh Fang-Mei Luo, Fang-Mei Luo, Ming-Xing Deng, Rong Yu, Lv Liu, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan

    Diterbitkan 2021-02-01
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  4. 4
    Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

    Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion oleh Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Yue Sheng, Chen-Yu Wang, Ya-Li Li, Ji-Shi Liu, Ji-Shi Liu

    Diterbitkan 2021-12-01
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  5. 5
    Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

    Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death oleh Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Rong Yu, Yue Sheng, Yue Sheng, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Yao Deng

    Diterbitkan 2022-10-01
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  6. 6
    Efficient Focusing of Aerosol Particles in the Microchannel under Reverse External Force: A Numerical Simulation Study

    Efficient Focusing of Aerosol Particles in the Microchannel under Reverse External Force: A Numerical Simulation Study oleh Yong Qin, Liang-Liang Fan, Liang Zhao

    Diterbitkan 2023-02-01
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  7. 7
    Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

    Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding oleh Fang-Mei Luo, Fang-Mei Luo, Liang-Liang Fan, Liang-Liang Fan, Yue Sheng, Yi Dong, Lv Liu

    Diterbitkan 2021-06-01
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  8. 8
    Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

    Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome oleh Yi-Hui Liu, Yi-Hui Liu, Hai-Feng Zhang, Jie-Yuan Jin, Yan-Qiu Wei, Chen-Yu Wang, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Lv Liu, Lv Liu

    Diterbitkan 2021-06-01
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  9. 9
    Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family

    Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family oleh Jie-Yuan Jin, Jie-Yuan Jin, Bing-Bing Guo, Bing-Bing Guo, Bing-Bing Guo, Yi Dong, Yue Sheng, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Li-Bing Zhang

    Diterbitkan 2021-10-01
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  10. 10
    The formation of droplet encapsulating particles in a Y-typed microchannel

    The formation of droplet encapsulating particles in a Y-typed microchannel oleh Qing Wang, Qi Liu, Liang-Liang Fan, Liang Zhao

    Diterbitkan 2021-04-01
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  11. 11
    A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

    A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient oleh Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Zhuang-Zhuang Yuan, Liang-Liang Fan, Liang-Liang Fan, Zi-Chen Jiang, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2020-11-01
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  12. 12
    A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels

    A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels oleh Chen-Yu Wang, Chen-Yu Wang, Ya-Qin Chen, Jie-Yuan Jin, Ran Du, Liang-Liang Fan, Liang-Liang Fan, Rong Xiang, Rong Xiang, Rong Xiang

    Diterbitkan 2020-07-01
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  13. 13
    GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis

    GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis oleh Jie-Yuan Jin, Pan-Feng Wu, Pan-Feng Wu, Fang-Mei Luo, Bing-Bing Guo, Lei Zeng, Lei Zeng, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Ju-Yu Tang, Ju-Yu Tang, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang

    Diterbitkan 2022-01-01
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  14. 14
    A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance

    A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance oleh Yi Tang, Liyang Zhang, Wenlin Xie, Jieyuan Jin, Yujiao Luo, Mingyang Deng, Zhengyu Liu, Hong Wei Pan, Yi Zhang, Zhaofen Zheng, Liang-Liang Fan, Liang-Liang Fan

    Diterbitkan 2020-03-01
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  15. 15
    Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus

    Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus oleh Yi Dong, Yi Zhang, Yue Sheng, Fang Wang, Lv Liu, Liang-Liang Fan

    Diterbitkan 2023-10-01
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  16. 16
    A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease

    A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease oleh Lv Liu, Hua Luo, Yue Sheng, Xi Kang, Hong Peng, Hong Luo, Liang-Liang Fan

    Diterbitkan 2023-11-01
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  17. 17
    Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia

    Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia oleh Qian Wang, Yong Deng, Liang-Liang Fan, Yi Dong, Ai-Qian Zhang, Yu-Xing Liu

    Diterbitkan 2024-10-01
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  18. 18
    The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

    The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations oleh Yi Tang, Yu-Xing Liu, Yue Sheng, Liang-Liang Fan, Ai-Qian Zhang, Zhao-Fen Zheng

    Diterbitkan 2023-01-01
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  19. 19
    Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

    Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family oleh Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang, Li-Yang Zhang

    Diterbitkan 2020-05-01
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  20. 20
    Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

    Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy oleh Liang-Liang Fan, Zhuang-Zhuang Yuan, Zi-Jun Jiao, Hui Zeng, Yi-Feng Yang, Zhi-Ping Tan

    Diterbitkan 2022-11-01
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