Zobrazeno 1 - 4
of 4
pro vyhledávání: '"DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group"'
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
Autor:
Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li, Zhihong Wu, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group, Ning Sun, Nan Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedi
Externí odkaz:
https://doaj.org/article/86f7eff09721442fa00d962aad5f197e
Autor:
Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Wang L; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Hu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Zhao S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Liu B; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Li Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Du H; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Zhang Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Li X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Yan Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China., Wang S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Wang Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Zhang J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Wu Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group, Qiu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
Publikováno v:
Current gene therapy [Curr Gene Ther] 2019; Vol. 19 (4), pp. 242-247.