Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome
Pan, Hong-Hong, Ruan, Dan-Dan, Wu, Min, Chen, Ting, Lu, Tao, Gan, Yu-Mian, Wang, Chen, Liao, Li-Sheng, Lin, Xin-Fu, Chen, Xin, Zhu, Yao-Bin, Fang, Zhu-Ting, Yu, Qing-Hua, Yang, Guo-Kai, Ye, Lie-Fu, Luo, Jie-Wei
Published in Journal of medical genetics (01.12.2023)
Published in Journal of medical genetics (01.12.2023)
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Journal Article
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency
Hu, Ya‐Nan, Gan, Yu‐Mian, Zhang, Yan‐Ping, Ruan, Dan‐Dan, Zhu, Yao‐Bin, Lin, Xin‐Fu, Fang, Zhu‐Ting, Liao, Li‐Sheng, Tang, Fa‐Qiang, Luo, Jie‐Wei
Published in The journal of gene medicine (01.02.2022)
Published in The journal of gene medicine (01.02.2022)
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Journal Article
Function of PHEX mutations p.Glu145 and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription
Gan, Yu-Mian, Zhang, Yan-Ping, Ruan, Dan-Dan, Huang, Jian-Bin, Zhu, Yao-Bin, Lin, Xin-Fu, Xiao, Xiao-Ping, Cheng, Qiong, Geng, Zhen-Bo, Liao, Li-Sheng, Tang, Fa-Qiang, Luo, Jie-Wei
Published in Cell death & disease (02.06.2022)
Published in Cell death & disease (02.06.2022)
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Journal Article
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family
Wei, Wen, Zheng, Xiu-fen, Ruan, Dan-dan, Gan, Yu-mian, Zhang, Yan-ping, Chen, Ying, Lin, Xin-fu, Tang, Fa-qiang, Luo, Jie-wei, Li, Yun-fei
Published in Neurological sciences (01.04.2022)
Published in Neurological sciences (01.04.2022)
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Journal Article
Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant
Wang, Ruo-Li, Ruan, Dan-Dan, Hu, Ya-Nan, Gan, Yu-Mian, Lin, Xin-Fu, Fang, Zhu-Ting, Liao, Li-Sheng, Tang, Fa-Qiang, He, Wu-Bing, Luo, Jie-Wei
Published in Frontiers in pediatrics (06.05.2022)
Published in Frontiers in pediatrics (06.05.2022)
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Journal Article
Differences in gut microbiota structure in patients with stages 4-5 chronic kidney disease
Wu, Rong, Ruan, Xing-Lin, Ruan, Dan-Dan, Zhang, Jian-Hui, Wang, Han-Lu, Zeng, Quan-Zuan, Lu, Tao, Gan, Yu-Mian, Luo, Jie-Wei, Wu, Jia-Bin
Published in American journal of translational research (01.01.2021)
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Published in American journal of translational research (01.01.2021)
Journal Article
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
Ruan, Dan-Dan, Gan, Yu-Mian, Lu, Tao, Yang, Xiao, Zhu, Yao-Bin, Yu, Qing-Hua, Liao, Li-Sheng, Lin, Ning, Qian, Xin, Luo, Jie-Wei, Tang, Fa-Qiang
Published in World journal of clinical cases (06.12.2020)
Published in World journal of clinical cases (06.12.2020)
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Journal Article
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
Ruan, Dan-Dan, Gan, Yu-Mian, Lu, Tao, Yang, Xiao, Zhu, Yao-Bin, Yu, Qing-Hua, Liao, Li-Sheng, Lin, Ning, Qian, Xin, Luo, Jie-Wei, Tang, Fa-Qiang
Published in World journal of clinical cases (06.12.2020)
Published in World journal of clinical cases (06.12.2020)
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Journal Article