Zobrazeno 1 - 10
of 47
pro vyhledávání: '"LI Guozhuang"'
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Autor:
XU Kexin, LI Guozhuang, WU Zhihong, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, ZHANG Jianguo, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 633-640 (2023)
Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs p
Externí odkaz:
https://doaj.org/article/fd695b79149147a194738e68b9ba6273
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 469-475 (2023)
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients. The approach uses symptoms, signs, various medical examination and laboratory results, and
Externí odkaz:
https://doaj.org/article/8ca809fdfad04eef938397d23aab0e6d
Autor:
LI Guozhuang, XU Kexin, ZHAO Sen, ZHANG Jianguo, QIU Guixing, SUI Ruifang, WANG Tao, SHEN Min, ZENG Xuejun, WANG Wei, MA Mingsheng, WEI Min, LONG Xiao, LYU Ke, HUO Li, XUAN Lei, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 547-553 (2023)
Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extreme
Externí odkaz:
https://doaj.org/article/3649a4c3f98c4b3a9d93d2b6873ffd03
Publikováno v:
Xiehe Yixue Zazhi, Vol 13, Iss 5, Pp 719-724 (2022)
Congenital scoliosis (CS) is a congenital spinal deformity that originates from abnormal spinal development in embryo. Characterized by rapid progression, severe deformity, and many complications, CS brings heavy economic and mental burden to patient
Externí odkaz:
https://doaj.org/article/deb07534b4e646819479d20841a64fa4
Autor:
Li, Guozhuang1,2,3 (AUTHOR), Xu, Kexin1,2,3 (AUTHOR), Yin, Xiangjie1,2,3 (AUTHOR), Yang, Jianle1,2,3 (AUTHOR), Cai, Jihao1,2,3 (AUTHOR), Yang, Xinyu1,2,3 (AUTHOR), Li, Qing1,2,3 (AUTHOR), Wang, Jie1,2,3 (AUTHOR), Zhao, Zhengye1,2,3 (AUTHOR), Mahesahti, Aoran1,2,3 (AUTHOR), Zhang, Ning1,2,3 (AUTHOR), Zhang, Terry Jianguo1,2,3,4 (AUTHOR) jgzhang_pumch@yahoo.com, Wu, Nan1,2,3,4 (AUTHOR) dr.wunan@pumch.cn
Publikováno v:
Orphanet Journal of Rare Diseases. 10/8/2024, Vol. 19 Issue 1, p1-7. 7p.
Autor:
Zhao, Hengqiang, Du, Huakang, Zhao, Sen, Chen, Zefu, Li, Yaqi, Xu, Kexin, Liu, Bowen, Cheng, Xi, Wen, Wen, Li, Guozhuang, Chen, Guilin, Zhao, Zhengye, Qiu, Guixing, Liu, Pengfei, Zhang, Terry Jianguo, Wu, Zhihong, Wu, Nan
Publikováno v:
In Cell Reports Methods 22 January 2024 4(1)
Autor:
Xu, Kexin1,2,3,4 (AUTHOR), Li, Guozhuang1,2,3,4 (AUTHOR), Wu, Zhihong2,3,4,5 (AUTHOR), Zhang, Terry Jianguo1,2,3,4 (AUTHOR) jgzhang_pumch@yahoo.com, Wu, Nan1,2,3,4 (AUTHOR) dr.wunan@pumch.cn
Publikováno v:
Orphanet Journal of Rare Diseases. 5/13/2024, Vol. 19 Issue 1, p1-6. 6p.
Publikováno v:
In Nuclear Inst. and Methods in Physics Research, B August 2023 541:289-297
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