Hasil Pencarian - Lv liu

  • Menampilkan 1 - 19 hasil dari 19
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  1. 1
    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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  2. 2
    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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  3. 3
    Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism

    Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism oleh Yangfan Fei, Lv Liu, Lixia Wu, Ou Wang, Xiaoping Xing, Aiping Li, Lingyi Huang

    Diterbitkan 2023-05-01
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  4. 4
    Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis

    Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis oleh Lv Liu, Jieli Qin, Ting Guo, Ping Chen, Ruoyun Ouyang, Hong Peng, Hong Luo

    Diterbitkan 2020-09-01
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  5. 5
    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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  6. 6
    Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis

    Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis oleh He-Yu Ji, Zhao-Jing Lin, Chan Chen, Jun-Mei Xu, Rong Yu, Lv Liu

    Diterbitkan 2023-05-01
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  7. 7
    Effects of subanaesthetic S-ketamine on postoperative delirium and cognitive function in elderly patients undergoing non-cardiac thoracic surgery: a protocol for a randomised, double-blinded, placebo-controlled and positive-controlled, non-inferiority trial (SKED trial)

    Effects of subanaesthetic S-ketamine on postoperative delirium and cognitive function in elderly patients undergoing non-cardiac thoracic surgery: a protocol for a randomised, doub... oleh Wei Wei, Ming Zhou, Yu Gu, Xi Zheng, Anyu Zhang, Lv Liu, Chunlin Tang, Yonghua Yao

    Diterbitkan 2022-08-01
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  8. 8
    Alleviating Pregastroscopy Anxiety Using Mobile Social Media Application

    Alleviating Pregastroscopy Anxiety Using Mobile Social Media Application oleh Dan Lu, Jing-Hua Wang, Chao Lu, Zheng-Lv Liu, Ajay Jain, Feng Ji, Qing Gu

    Diterbitkan 2022-06-01
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  9. 9
    Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy

    Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy oleh Yu-Xing Liu, Yu-Xing Liu, Man-Hua Ding, Yue Sheng, Meng-Fei Sun, Lv Liu, Yang Zhang

    Diterbitkan 2023-01-01
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  10. 10
    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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  11. 11
    A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

    A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease oleh Liang‐Liang Fan, Lv Liu, Fang‐Mei Luo, Ran Du, Chen‐Yu Wang, Yi Dong, Ji‐Shi Liu

    Diterbitkan 2020-12-01
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  12. 12
    ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease

    ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease oleh Chen-Yu Wang, Si-Hua Chang, Cheng-Feng Hu, Yi-Qiao Hu, Hong Luo, Lv Liu, Liang-Liang Fan

    Diterbitkan 2024-09-01
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  13. 13
    Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia

    Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia oleh Yi Tang, Qian Wang, Wei-Kai Zhang, Yu-Xing Liu, Zhao-Fen Zheng, Liang-Liang Fan, Lv Liu, Jin He

    Diterbitkan 2023-04-01
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  14. 14
    Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

    Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling oleh Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan, Ya-Li Li

    Diterbitkan 2019-11-01
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  15. 15
    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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  16. 16
    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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  17. 17
    An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

    An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families oleh Ting Guo, Zhi-Ping Tan, Hua-Mei Chen, Dong-yuan Zheng, Lv liu, Xin-Gang Huang, Ping Chen, Hong Luo, Yi-Feng Yang

    Diterbitkan 2017-08-01
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  18. 18
    Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

    Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient oleh Shan-Yu Gao, Shan-Yu Gao, Shan-Yu Gao, Yu-Xing Liu, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu

    Diterbitkan 2023-10-01
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  19. 19
    Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis

    Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis oleh Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Ai-Qian Zhang, Fang-Mei Luo, Fang-Mei Luo, Yue Sheng, Yue Sheng, Chen-Yu Wang, Chen-Yu Wang, Yi Dong, Yi Dong, Liangliang Fan, Liangliang Fan, Liangliang Fan, Liangliang Fan, Lv Liu

    Diterbitkan 2021-08-01
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