PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling
Li, Huanzheng, Zhang, Qian, Wan, Ru, Zhou, Lili, Xu, Xueqin, Xu, Chenyang, Yu, Yuan, Xu, Yunzhi, Xiang, Yanbao, Tang, Shaohua
Published in Journal of cellular and molecular medicine (01.11.2023)
Published in Journal of cellular and molecular medicine (01.11.2023)
Get full text
Journal Article
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Xiang, Yanbao, Xu, Chenyang, Xu, Yunzhi, Zhou, Lili, Tang, Shaohua, Xu, Xueqin
Published in Journal of clinical laboratory analysis (01.11.2022)
Published in Journal of clinical laboratory analysis (01.11.2022)
Get full text
Journal Article
Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism
Xu, Chenyang, Xiang, Yanbao, Li, Huanzheng, Xu, Yunzhi, Mao, Yijian, Zhou, Lili, Xu, Xueqin, Tang, Shaohua
Published in Journal of clinical laboratory analysis (01.02.2021)
Published in Journal of clinical laboratory analysis (01.02.2021)
Get full text
Journal Article
The variations in human orphan G protein‐coupled receptor QRFPR affect PI3K‐AKT‐mTOR signaling
Li, Huanzheng, Lou, Ran, Xu, Xueqin, Xu, Chenyang, Yu, Yuan, Xu, Yunzhi, Hu, Lin, Xiang, Yanbao, Lin, Xuan, Tang, Shaohua
Published in Journal of clinical laboratory analysis (01.07.2021)
Published in Journal of clinical laboratory analysis (01.07.2021)
Get full text
Journal Article
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
Xu, Chenyang, Xiang, Yanbao, Xu, Xueqin, Zhou, Lili, Li, Huanzheng, Dong, Xueqin, Tang, Shaohua
Published in Molecular cytogenetics (25.08.2020)
Published in Molecular cytogenetics (25.08.2020)
Get full text
Journal Article
Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Hu, Lin, Li, Huanzheng, Sun, Guang, Wu, Ke, Luan, Zhaotang, Xiang, Yanbao, Tang, Shaohua
Published in Molecular genetics & genomic medicine (01.04.2021)
Published in Molecular genetics & genomic medicine (01.04.2021)
Get full text
Journal Article
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders
Chen, Chong, Jiang, Yi, Xu, Chenyang, Liu, Xinting, Hu, Lin, Xiang, Yanbao, Chen, Qingshuang, Chen, Denghui, Li, Huanzheng, Xu, Xueqin, Tang, Shaohua
Published in Database : the journal of biological databases and curation (2016)
Published in Database : the journal of biological databases and curation (2016)
Get full text
Journal Article
Correction to: Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability
Chen, Xiangnan, Li, Huanzheng, Chen, Chong, Zhou, Lili, Xu, Xueqin, Xiang, Yanbao, Tang, Shaohua
Published in Molecular diagnosis & therapy (01.02.2019)
Published in Molecular diagnosis & therapy (01.02.2019)
Get full text
Journal Article
Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders
Chen, Chong, Jiang, Yi, Xu, Chenyang, Liu, Xinting, Hu, Lin, Xiang, Yanbao, Chen, Qingshuang, Chen, Denghui, Li, Huanzheng, Xu, Xueqin, Tang, Shaohua
Published in Database : the journal of biological databases and curation (31.08.2016)
Published in Database : the journal of biological databases and curation (31.08.2016)
Get full text
Journal Article
Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome
Xiang, Yanbao, Wan, Ru, Li, Huanzheng, Xu, Chenyang, Xu, Yunzhi, Tang, Shaohua
Published in Zhonghua yi xue yi chuan xue za zhi (10.03.2022)
Published in Zhonghua yi xue yi chuan xue za zhi (10.03.2022)
Get more information
Journal Article
Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy
Li, Huanzheng, Xu, Chenyang, Mao, Yijian, Lu, Jinfang, Xiang, Yanbao, Xu, Xueqin, Tang, Shaohua
Published in Zhonghua yi xue yi chuan xue za zhi (10.04.2018)
Published in Zhonghua yi xue yi chuan xue za zhi (10.04.2018)
Get more information
Journal Article
Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct
Xiang, Yanbao, Li, Huanzheng, Xu, Xueqin, Xu, Chenyang, Chen, Chong, Lin, Xiaoling, Tang, Shaohua
Published in Zhonghua yi xue yi chuan xue za zhi (10.06.2017)
Published in Zhonghua yi xue yi chuan xue za zhi (10.06.2017)
Get more information
Journal Article
SNP array analysis of three cases with partial 21q trisomy
Zhou, Lili, Chen, Chong, Zheng, Zhaoke, Wu, Hao, Xie, Fanni, Lin, Xiaoling, Xiang, Yanbao, Xu, Xueqin, Tang, Shaohua
Published in Zhonghua yi xue yi chuan xue za zhi (10.12.2017)
Published in Zhonghua yi xue yi chuan xue za zhi (10.12.2017)
Get more information
Journal Article
Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang
Xu, Chenyang, Xiang, Yanbao, Chen, Chong, Lin, Xiaoling, Li, Huanzheng, Lu, Jinfang, Hu, Lin, Xu, Xueqin, Tang, Shaohua
Published in Zhonghua yi xue yi chuan xue za zhi (10.08.2017)
Published in Zhonghua yi xue yi chuan xue za zhi (10.08.2017)
Get more information
Journal Article