Search Results - Ruolan Guo

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  1. 1
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    Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis by 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

    Published 2022
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  2. 2
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    Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review by Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao

    Published 2023
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  3. 3
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    Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency by Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu

    Published 2019
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  4. 4
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    NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders by Wei Li, Peng Zhang, Yue Zhang, Xin Ni, Ruolan Guo, Wenjian Xu, Chanjuan Hao, Xuanshi Liu, Fei Leng

    Published 2023
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  5. 5
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    Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy by Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

    Published 2020
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  6. 6
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    Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test by Wei Li, Qi Guo, Peng Zhang, Yue Zhang, Kun Xia, Lu Xia, Xin Ni, Ruolan Guo, Wenjian Xu, Chunlin Zhao, Ting Bai, Chanjuan Hao

    Published 2023
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