Merosin-deficient congenital muscular dystrophy type 1A: A case report

por HE, ZHANWEN, LUO, XIANGYANG, LIANG, LIYANG, LI, PINGGAN, LI, DONGFANG, ZHE, MENG
Publicado 2013

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

por Yuan, Haiming, Zhang, Lina, Chen, Mengfan, Zhu, Junping, Meng, Zhe, Liang, Liyang
Publicado 2015

A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

por Yuan, Haiming, Meng, Zhe, Liu, Liping, Deng, Xiaoyan, Hu, Xizi, Liang, Liyang
Publicado 2016

Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review

por Feng, Shuo, He, Zhanwen, Que, Liping, Luo, Xiangyang, Liang, Liyang, Li, Dongfang, Qin, Lijun
Publicado 2022

Endocrine complications in patients with thalassaemia major

por Meng, Zhe, Liang, Liyang, Zhang, Lina, Hou, Liping, Liu, Zulin, Luo, Xiangyang, Fang, Jianpei, He, Zhanwen, Li, Dongfang
Publicado 2013

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

por Yuan, Haiming, Meng, Zhe, Zhang, Lina, Luo, Xiangyang, Liu, Liping, Chen, Mengfan, Li, Xinwei, Zhao, Weiwei, Liang, Liyang
Publicado 2016

Effective surgical treatment of life-threatening huge vascular anomalies associated with thrombocytopenia and coagulopathy in infants unresponsive to drug therapy

por Wu, Yaohao, Qiu, Ronglin, Zeng, Lexiang, Liang, Liyang, Zhang, Jie, Zhou, Jiajia, Jiang, Wenli, Su, Jianhang, Deng, Xiaogeng
Publicado 2020

Clinical application of artificial intelligence in longitudinal image analysis of bone age among GHD patients

por Zhang, Lina, Chen, Jia, Hou, Lele, Xu, Yingying, Liu, Zulin, Huang, Siqi, Ou, Hui, Meng, Zhe, Liang, Liyang
Publicado 2022

Interleukin-10 inhibits interleukin-1β production and inflammasome activation of microglia in epileptic seizures

por Sun, Yi, Ma, Jiangjun, Li, Dongfang, Li, Pinggan, Zhou, Xiaolin, Li, Yu, He, Zhanwen, Qin, Lijun, Liang, Liyang, Luo, Xiangyang
Publicado 2019

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the li...

por Deng, Shuyun, Hou, Lele, Xia, Dan, Li, Xiaojuan, Peng, Xiaofang, Xiao, Xiaoqin, Zhang, Jieming, Meng, Zhe, Zhang, Lina, Ouyang, Nengtai, Liang, Liyang
Publicado 2022

Structural and Lipidomic Alterations of Striatal Myelin in 16p11.2 Deletion Mouse Model of Autism Spectrum Disorder

por Ju, Jun, Yang, Xiuyan, Jiang, Jian, Wang, Dilong, Zhang, Yumeng, Zhao, Xiaofeng, Fang, Xiaoyi, Liao, Huanquan, Zheng, Lei, Li, Shupeng, Hou, Sheng-Tao, Liang, Liyang, Pan, Yihang, Li, Huiliang, Li, Ningning
Publicado 2021

Microduplication of 16p11.2 locus Potentiates Hypertrophic Obesity in Association with Imbalanced Triglyceride Metabolism in White Adipose Tissue

por Wang, Dilong, Mai, Qiuyan, Yang, Xiuyan, Chi, Xinjin, Li, Ruohan, Jiang, Jian, Luo, Liang, Fang, Xiaoyi, Yun, Peng, Liang, Liyang, Yang, Guang, Song, Kun, Fang, Liang, Chen, Yun, Zhang, Ying, He, Yulong, Li, Ningning, Pan, Yihang
Publicado 2022

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

por 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
Publicado 2022

A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children

por Hou, Ling, Li, Xiuzhen, Liu, Li, Wei, Hanyang, Xiong, Feng, Du, Hongwei, Yang, Yu, Zhang, Huifeng, Zhang, Qin, Yao, Hui, Fu, Junfen, Yan, Xiaoli, Cui, Lanwei, Liu, Geli, Li, Tang, Chen, Shaoke, Li, Pin, Xin, Ying, Liang, Xiangrong, Yu, Baosheng, Dong, Zhiya, Chen, Ruimin, Ma, Huamei, Cheng, Xinran, Luo, Feihong, Gong, Chunxiu, Song, Wenhui, Chen, Xiaobo, Zhang, Zhixin, Peng, Xiangyun, Li, Guimei, Liang, Liyang, Maimaiti, Mireguli, Cheung, Pik To, Luo, Xiaoping
Publicado 2021

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

por 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
Publicado 2023