Hasil Pencarian - Ruolan Guo

  • Menampilkan 1 - 19 hasil dari 19
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  1. 1
    Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis

    Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis oleh Haichong Li, Wenyan Zhang, Wenyan Zhang, Wenyan Zhang, Wenyan Zhang, Ziming Yao, Ruolan Guo, Ruolan Guo, Ruolan Guo, Ruolan Guo, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao, Xuejun Zhang

    Diterbitkan 2022-08-01
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  2. 2
    Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study

    Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study oleh Wenyan Zhang, Wenyan Zhang, Ziming Yao, Ruolan Guo, Ruolan Guo, Ruolan Guo, Haichong Li, Shuang Zhao, Shuang Zhao, Wei Li, Wei Li, Wei Li, Xuejun Zhang, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao

    Diterbitkan 2022-08-01
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  3. 3
    Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

    Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders oleh Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao

    Diterbitkan 2020-06-01
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  4. 4
    Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

    Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine oleh Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang

    Diterbitkan 2023-11-01
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  5. 5
    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review oleh Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao

    Diterbitkan 2023-10-01
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  6. 6
    Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy

    Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy oleh Yuanying Chen, Yuanying Chen, Qiqing Sun, Chanjuan Hao, Chanjuan Hao, Ruolan Guo, Ruolan Guo, Chentong Wang, Chentong Wang, Weili Yang, Yaodong Zhang, Fangjie Wang, Wei Li, Wei Li, Jun Guo, Jun Guo

    Diterbitkan 2022-08-01
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  7. 7
    A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

    A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency oleh Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao

    Diterbitkan 2019-12-01
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  8. 8
    Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

    Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency oleh Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu

    Diterbitkan 2019-06-01
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  9. 9
    CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia

    CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia oleh Qirui Li, Ruolan Guo, Lu Gao, Lang Cui, Zhihui Zhao, Xia Yu, Yue Yuan, Xiwei Xu

    Diterbitkan 2019-11-01
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  10. 10
    A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

    A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy oleh Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li

    Diterbitkan 2019-08-01
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  11. 11
    NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders

    NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders oleh Wei Li, Peng Zhang, Yue Zhang, Xin Ni, Ruolan Guo, Wenjian Xu, Chanjuan Hao, Xuanshi Liu, Fei Leng

    Diterbitkan 2023-12-01
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  12. 12
    Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

    Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy oleh Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

    Diterbitkan 2020-03-01
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  13. 13
    Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue

    Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue oleh Peiyi Yang, Na Xu, Yan Su, Chao Duan, Shengcai Wang, Libing Fu, Tong Yu, Ruolan Guo, Xiaoli Ma

    Diterbitkan 2023-01-01
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  14. 14
    Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

    Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4 oleh Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao

    Diterbitkan 2021-09-01
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  15. 15
    Biallelic inactivation of SDHA results in comorbidity of pediatric recurrent neuroblastoma and gastric stromal tumor

    Biallelic inactivation of SDHA results in comorbidity of pediatric recurrent neuroblastoma and gastric stromal tumor oleh Shen Yang, Shixuan Zhang, Wen Zhao, Libing Fu, Li Zhang, Chan Hon Chui, Ruolan Guo, Yan Su, Dayan Sun, Huanmin Wang

    Diterbitkan 2024-11-01
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  16. 16
    Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests

    Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests oleh Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li

    Diterbitkan 2023-03-01
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  17. 17
    A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

    A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency oleh Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang

    Diterbitkan 2021-12-01
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  18. 18
    Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test

    Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test oleh Wei Li, Qi Guo, Peng Zhang, Yue Zhang, Kun Xia, Lu Xia, Xin Ni, Ruolan Guo, Wenjian Xu, Chunlin Zhao, Ting Bai, Chanjuan Hao

    Diterbitkan 2023-12-01
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  19. 19
    Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

    Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China oleh Yingchao Liu, Yingchao Liu, Chanjuan Hao, Kechun Li, Kechun Li, Xuyun Hu, Hengmiao Gao, Hengmiao Gao, Jiansheng Zeng, Jiansheng Zeng, Ruolan Guo, Jun Liu, Jun Guo, Zheng Li, Zheng Li, Zhan Qi, Xinlei Jia, Xinlei Jia, Wei Li, Suyun Qian, Suyun Qian

    Diterbitkan 2021-09-01
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