Hasil Pencarian - Victor-Wei Zhang

Perbaiki Hasil
  1. 1
    Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene

    Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene oleh Fang Chen, Zhiwei Xie, Victor Wei Zhang, Victor Wei Zhang, Chen Chen, Huifeng Fan, Dongwei Zhang, Wenhui Jiang, Chunli Wang, Peiqiong Wu

    Diterbitkan 2022-04-01
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  2. 2
    Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

    Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa oleh Chunlin You, Chunlin You, Weike Zeng, Lingna Deng, Zhihao Lei, Xinyi Gao, Victor Wei Zhang, Victor Wei Zhang, Yidong Wang, Yidong Wang, Yidong Wang

    Diterbitkan 2020-05-01
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  3. 3
    Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge

    Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge oleh Qi Huang, Cheng Jiang, Jiazhong Sun, Junli Xue, Victor Wei Zhang

    Diterbitkan 2022-11-01
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  4. 4
    Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNAGly (MT-TG) Variant

    Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNAGly (MT-TG) Variant oleh Haiyan Yang, Victor Wei Zhang, Liang Ai, Siyi Gan, Liwen Wu

    Diterbitkan 2022-03-01
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  5. 5
    Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

    Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review oleh Fengji Cui, Tuoya Wulan, Qian Zhang, Victor Wei Zhang, Yuhua Jiang

    Diterbitkan 2024-03-01
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  6. 6
    A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

    A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies oleh Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson

    Diterbitkan 2014-01-01
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  7. 7
    Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

    Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis oleh Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin

    Diterbitkan 2019-10-01
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  8. 8
    Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

    Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene oleh Benzhen Wang, Benzhen Wang, Zhanhui Du, Guangsong Shan, Chuanzhu Yan, Victor Wei Zhang, Zipu Li

    Diterbitkan 2021-06-01
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  9. 9
    Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort

    Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort oleh Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen

    Diterbitkan 2021-02-01
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  10. 10
    Prevalence estimation of ATTRv in China based on genetic databases

    Prevalence estimation of ATTRv in China based on genetic databases oleh Zheng Yongsheng, Sun Chong, Liu Bingyou, Hu Jianian, Chen Haofeng, Zhao Chongbo, Victor Wei Zhang, Lin Jie

    Diterbitkan 2023-04-01
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  11. 11
    Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review

    Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review oleh Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu

    Diterbitkan 2024-01-01
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  12. 12
    Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

    Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients oleh Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang

    Diterbitkan 2022-03-01
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  13. 13
    Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

    Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia oleh Dejian Yuan, Dejian Yuan, Tizhen Yan, Tizhen Yan, Shiqiang Luo, Shiqiang Luo, Jun Huang, Jun Huang, Jianqiang Tan, Jianqiang Tan, Jianping Zhang, Victor Wei Zhang, Victor Wei Zhang, Yueyuan Lan, Taobo Hu, Jing Guo, Mingwei Huang, Dingyuan Zeng

    Diterbitkan 2021-12-01
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  14. 14
    Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders

    Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders oleh Xuejun Ouyang, Yu Zhang, Lijuan Zhang, Jixuan Luo, Ting Zhang, Hui Hu, Lin Liu, Lieqiang Zhong, Shaoying Zeng, Pingyi Xu, Zhenjiang Bai, Lee-Jun Wong, Jing Wang, Jing Wang, Chunli Wang, Bin Wang, Victor Wei Zhang, Victor Wei Zhang

    Diterbitkan 2021-08-01
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  15. 15
    The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

    The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients oleh Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang

    Diterbitkan 2018-08-01
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  16. 16
    Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

    Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases oleh Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu

    Diterbitkan 2022-03-01
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  17. 17
    Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

    Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE oleh Wenxia Zheng, Zhenxing Yan, Rongni He, Yaowei Huang, Aiqun Lin, Wei Huang, Yuying Su, Shaoyuan Li, Victor Wei Zhang, Huifang Xie

    Diterbitkan 2018-10-01
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  18. 18
    Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

    Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China oleh Hui-ming Yan, Hui-ming Yan, Hui-ming Yan, Zhi-mei Liu, Bei Cao, Victor Wei Zhang, Victor Wei Zhang, Yi-duo He, Zheng-jun Jia, Zheng-jun Jia, Zheng-jun Jia, Hui Xi, Hui Xi, Hui Xi, Jing Liu, Jing Liu, Jing Liu, Fang Fang, Hua Wang, Hua Wang, Hua Wang

    Diterbitkan 2021-07-01
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  19. 19
    Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia

    Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia oleh Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu, Jun Jiang

    Diterbitkan 2018-10-01
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  20. 20
    Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient

    Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient oleh Shuo Tang, Jieyu You, Li Liu, Hongjuan Ouyang, Na Jiang, Jiaqi Duan, Canlin Li, Yanhong Luo, Wenting Zhang, Meizheng Zhan, Chenxi Liu, Gui‐Zhen Lyu, Victor Wei Zhang, Hongmei Zhao

    Diterbitkan 2023-08-01
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