Výsledky vyhledávání - Ruolan Guo

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

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Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study Autor 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

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Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders Autor 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

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

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Fumarate and nitrate reduction regulator (FNR) modulates hypermucoviscosity and virulence in hypervirulent Klebsiella pneumoniae through anaerobic adaptation Autor Yidan Xu, Ruolan Guo, Ruomei Wang, Zhe Su, Yulu Wu, Chengbin Xie, Pinjia Wang

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

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Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy Autor 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

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

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

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

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

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Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns Autor Chanjuan Hao, Xuyun Hu, Ruolan Guo, Zhan Qi, Limin Xie, Feng Jin, Huimin Li, Xin Ni, Wei Li

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

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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 Autor Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

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

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

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

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

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

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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 Autor Wei Li, Qi Guo, Peng Zhang, Yue Zhang, Kun Xia, Lu Xia, Xin Ni, Ruolan Guo, Wenjian Xu, Chunlin Zhao, Ting Bai, Chanjuan Hao

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