Showing 1 - 20 results of 21 for search 'Yongguo Yu', query time: 0.08s Refine Results
  1. 1
    Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients

    Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intel... by Bing Xiao, Xiantao Ye, Lili Wang, Yanjie Fan, Xuefan Gu, Xing Ji, Yu Sun, Yongguo Yu, Yongguo Yu

    Published 2020-07-01
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  2. 2
    Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

    Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder by Yanjie Fan, Xiujuan Du, Xin Liu, Lili Wang, Fei Li, Yongguo Yu

    Published 2018-12-01
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  3. 3
    Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

    Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders by Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yongguo Yu

    Published 2017-10-01
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  4. 4
    Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

    Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle by Xingyu Zhang, Bo Wang, Guoling You, Ying Xiang, Qihua Fu, Yongguo Yu, Xiaoqing Zhang

    Published 2021-10-01
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  5. 5
    Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

    Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview by Weiqian Dai, Deyun Lu, Xuefan Gu, Yongguo Yu, the Mainland Chinese League of AADC Rare Disease

    Published 2020-03-01
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  6. 6
    Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

    Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders by Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan, Yongguo Yu

    Published 2024-09-01
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  7. 7
    Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies

    Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies by Hailan He, Hailan He, Tobias Stauber, Weiping Liao, Yuwu Jiang, Yongguo Yu, Jing Peng, Jing Peng

    Published 2022-09-01
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  8. 8
    Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

    Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants by Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease

    Published 2022-11-01
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  9. 9
    Gut microbiota and metabolic changes in children with idiopathic short stature

    Gut microbiota and metabolic changes in children with idiopathic short stature by Luyan Yan, Bin Ye, Min Yang, Yongsheng Shan, Dan Yan, DanFeng Fang, Kaichuang Zhang, Yongguo Yu

    Published 2024-07-01
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  10. 10
    A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

    A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome by Xueren Gao, Zhuo Huang, Yanjie Fan, Yu Sun, Huili Liu, Lili Wang, Xue-Fan Gu, Yongguo Yu

    Published 2018-07-01
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  11. 11
    Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.

    Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. by Jian Wang, Tingting Yu, Lei Yin, Jing Li, Li Yu, Ye Shen, Yongguo Yu, Yongnian Shen, Qihua Fu

    Published 2013-01-01
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  12. 12
    A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

    A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome by Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yongguo Yu

    Published 2019-12-01
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  13. 13
    The Fas/Fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.

    The Fas/Fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons. by Xiaodong Huang, Zhaohui Lu, Zhongwei Lv, Tingting Yu, Peirong Yang, Yongnian Shen, Yu Ding, Da Fu, Xiaoping Zhang, Qihua Fu, Yongguo Yu

    Published 2013-01-01
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  14. 14
    Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

    Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches by Bing Xiao, Bing Xiao, Wenjuan Qiu, Wenjuan Qiu, Jun Ye, Jun Ye, Huiwen Zhang, Huiwen Zhang, Hong Zhu, Lei Wang, Lili Liang, Lili Liang, Feng Xu, Feng Xu, Ting Chen, Ting Chen, Yan Xu, Yan Xu, Yongguo Yu, Yongguo Yu, Xuefan Gu, Xuefan Gu, Lianshu Han, Lianshu Han

    Published 2020-05-01
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  15. 15
    Identification of RUNX2 variants associated with cleidocranial dysplasia

    Identification of RUNX2 variants associated with cleidocranial dysplasia by Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu, Yongguo Yu

    Published 2019-09-01
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  16. 16
    A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

    A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes by Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yongguo Yu

    Published 2020-11-01
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  17. 17
    Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

    Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity. by Zhaojing Zheng, Li Hong, Xiaodong Huang, Peirong Yang, Juan Li, Yu Ding, Ru-En Yao, Juan Geng, Yongnian Shen, Yiping Shen, Qihua Fu, Yongguo Yu

    Published 2013-01-01
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  18. 18
    Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

    Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China by Xiaomei Luo, Hong Zhu, Lili Wang, Bing Xiao, Yanjie Fan, Hui Ye, Xiaomin Ying, Wenjuan Qiu, Huiwen Zhang, Lianshu Han, Xuefan Gu, Yongguo Yu, Lei Wang

    Published 2021-03-01
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  19. 19
    Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder

    Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder by Xiujuan Du, Xueren Gao, Xin Liu, Lixiao Shen, Kai Wang, Yanjie Fan, Yu Sun, Xiaomei Luo, Huili Liu, Lili Wang, Yu Wang, Zhuwen Gong, Jianguo Wang, Yongguo Yu, Fei Li

    Published 2018-11-01
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  20. 20
    Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

    Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia by Haiou Yang, Lili Wang, Juan Geng, Tingting Yu, Ru-en Yao, Yongnian Shen, Lei Yin, Daming Ying, Rongkui Huang, Yunfang Zhou, Huijin Chen, Lanbo Liu, Xi Mo, Yiping Shen, Qihua Fu, Yongguo Yu

    Published 2013-09-01
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