日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China

一种具有潜在创始人效应的低活性SRD5A2单倍型:由来自中国南方5α-还原酶2型缺乏症患者的常见变异组成。

Lei, Xiaoyun; Zhou, Xu; Cheng, Zifeng; Zhao, Sen; Gui, Chunrong; Ma, Yunting; Shi, Meizhen; Wei, Xianda; Xie, Bobo; Fan, Xin; Chen, Shaoke; Tao, Qiuxing; Su, Yuna; Yuan, Dejian; Gui, Baoheng

EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.

EPHA4 信号失调与异常运动和特发性脊柱侧弯的发生有关

Wang Lianlei, Yang Xinyu, Zhao Sen, Zheng Pengfei, Wen Wen, Xu Kexin, Cheng Xi, Li Qing, Khanshour Anas M, Koike Yoshinao, Liu Junjun, Fan Xin, Otomo Nao, Chen Zefu, Li Yaqi, Li Lulu, Xie Haibo, Zhu Panpan, Li Xiaoxin, Niu Yuchen, Wang Shengru, Liu Sen, Yuan Suomao, Terao Chikashi, Li Ziquan, Chen Shaoke, Zhao Xiuli, Liu Pengfei, Posey Jennifer E, Wu Zhihong, Qiu Guixing, Ikegawa Shiro, Lupski James R, Rios Jonathan J, Wise Carol A, Zhang Jianguo T, Zhao Chengtian, Wu Nan

Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort

遗传性骨骼疾病:儿科队列的表型-基因型特征和RhGH治疗反应

Huang, Yiyun; Peng, Yan; Li, Chuan; Xie, Bobo; Wei, Xianda; Gui, Baoheng; Meng, Juan; Chen, Shaoke; Fan, Xin

Long-Term Exposure to Fine Particulate Matter (PM(2.5)) Components and Precocious Puberty Among School-Aged Children: Cross-Sectional Study

长期暴露于细颗粒物(PM2.5)成分与学龄儿童性早熟:横断面研究

Zhou, Xuelian; Zhang, Xiaochi; Bai, Guannan; Dong, Guanping; Li, Xinyi; Chen, Ruimin; Chen, Shaoke; Zheng, Rongxiu; Wang, Chunlin; Wei, Haiyan; Cao, Bingyan; Liang, Yan; Yao, Hui; Su, Zhe; Maimaiti, Mireguli; Luo, Feihong; Li, Pin; Zhu, Min; Du, Hongwei; Yang, Yu; Cui, Lanwei; Wang, Jinling; Yuan, Jinna; Liu, Zhuang; Wu, Wei; Zhao, Qi; Fu, Junfen

49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes

49、XXXYY:亲本来源、发生情况和临床表型

Du, Yufang; Liao, Liangrong; Wei, Xianda; Ma, Yunting; Shi, Meizhen; Li, Chunyan; Liu, Juliang; Lin, Wenting; Zeng, Hao; Chen, Shaoke; Gui, Baoheng

Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review

ABHD16A基因变异引起的遗传性痉挛性截瘫的遗传和表型谱的扩展:基于新变异和文献综述的综合分析

He, Manling; Zhang, Qiang; Chen, Shaoke; Li, Chuan; Xie, Bobo; Zhao, Qingxiu; Huang, Yiyun; Fan, Xin

Long-term Pegylated GH for Children With GH Deficiency: A Large, Prospective, Real-world Study

长期使用聚乙二醇化生长激素治疗生长激素缺乏症儿童:一项大型前瞻性真实世界研究

Hou, Ling; Huang, Ke; Gong, Chunxiu; Luo, Feihong; Wei, Haiyan; Liang, Liyang; Du, Hongwei; Zhang, Jianping; Zhong, Yan; Chen, Ruimin; Chen, Xinran; Pan, Jiayan; Jin, Xianjiang; Zeng, Ting; Liao, Wei; Liu, Deyun; Lan, Dan; Zhu, Shunye; Dong, Zhiya; Ma, Huamei; Yang, Yu; Xiong, Feng; Lu, Ping; Cheng, Shengquan; Gu, Xuefan; Jin, Runming; Liu, Yu; Wu, Jinzhun; Xu, Xu; Chen, Linqi; Dong, Qin; Pan, Hui; Su, Zhe; Liu, Lijun; Luo, Xiaoming; Ni, Shining; Chen, Zhihong; Hu, Yuhua; Wang, Chunlin; Liu, Jing; Liu, Li; Lu, Biao; Wang, Xinli; Wang, Yunfeng; Yang, Fan; Zhang, Manyan; Cao, Lizhi; Liu, GeLi; Yao, Hui; Zhan, Yaqin; Dai, Mingjuan; Li, Guimei; Li, Li; Liu, Yanjie; Wang, Kan; Xiao, Yanfeng; Zhang, Xingxing; Dong, Junhua; Gu, Zaiyan; Ying, Lirong; Huang, Feng; Liu, Yanling; Liu, Zheng; Ye, Jin; Zhao, Dongmei; Hu, Xu; Jiang, Zhihong; Ye, Kan; Zhu, Hong; Chen, Shaoke; Chen, Xiaobo; Wan, Naijun; Xu, Zhuangjian; Yin, Qingjin; Zhang, Hongxiao; Huang, Xiaodong; Yin, Jianying; Zhang, Huifeng; Li, Pin; Yin, Ping; Fu, Junfen; Luo, XiaoPing

Construction of a new complete growth reference for urban Chinese children

构建中国城市儿童全新完整的成长参考标准

Wu, Wei; Chen, JingNan; Mo, MinJia; Si, Shuting; Huang, Ke; Chen, RuiMin; Maimaiti, Mireguli; Chen, ShaoKe; Gong, Chunxiu; Zhu, Min; Wang, ChunLin; Su, Zhe; Liang, Yan; Yao, Hui; Wei, HaiYan; Zheng, RongXiu; Du, HongWei; Yang, Yu; Luo, FeiHong; Li, Pin; Cui, LanWei; Dong, GuanPing; Yu, YunXian; Fu, Junfen

Delineation of dual molecular diagnosis in patients with skeletal deformity

骨骼畸形患者双重分子诊断的界定

Liu, Lian; Sun, Liying; Chen, Yujun; Wang, Muchuan; Yu, Chenxi; Huang, Yingzhao; Zhao, Sen; Du, Huakang; Chen, Shaoke; Fan, Xin; Tian, Wen; Wu, Zhihong; Qiu, Guixing; Zhang, Terry Jianguo; Wu, Nan

Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study

聚乙二醇重组人生长激素治疗中国青春期前生长缓慢矮小儿童:一项多中心真实世界研究报告的剂量

Chen, Jiajia; Zhong, Yan; Wei, Haiyan; Chen, Shaoke; Su, Zhe; Liu, Lijun; Liang, Liyang; Lu, Ping; Chen, Linqi; Chen, Ruimin; Ni, Shining; Wang, Xinli; Li, Li; Wang, Yunfeng; Xu, Xu; Xiao, Yanfeng; Yao, Hui; Liu, Geli; Jin, Runming; Cao, Bingyan; Wu, Di; Su, Chang; Li, Wenjing; Qin, Miao; Li, Xiaoqiao; Luo, Xiaoping; Gong, Chunxiu