Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

por Zhen, Xiumei, Wu, Bailin, Wang, Jian, Lu, Cuiling, Gao, Huafang, Qiao, Jie
Publicado 2015

Variant analysis of 92 Chinese Han families with hearing loss

por Jin, Xiaohua, Huang, Shasha, An, Lisha, Zhang, Chuan, Dai, Pu, Gao, Huafang, Ma, Xu
Publicado 2022

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

por Shen, Yue, Lu, Chao, Cheng, Tingting, Cao, Zongfu, Chen, Cuixia, Ma, Xu, Gao, Huafang, Luo, Minna
Publicado 2023

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS

por Yan, Yousheng, Jin, Xiaohua, Wang, Xing, Zhang, Chuan, Zhang, Qinhua, Zheng, Lei, Feng, Xuan, Hao, Shengju, Gao, Huafang, Ma, Xu
Publicado 2020

Dysregulation of follicle fatty acid is a potential driver of human primary ovarian insufficiency

por Wang, Lina, Ma, Jihong, Kang, Yixin, Zhang, Na, Li, Xinyu, Wang, Hao, Song, Donghong, Li, Mo, Gao, Huafang, Zhen, Xiumei
Publicado 2020

Lectin RCA-I specifically binds to metastasis-associated cell surface glycans in triple-negative breast cancer

por Zhou, Shu-Min, Cheng, Li, Guo, Shu-Juan, Wang, Yang, Czajkowsky, Daniel M, Gao, Huafang, Hu, Xiao-Fang, Tao, Sheng-Ce
Publicado 2015

Mutation spectra and founder effect of TMC1 in patients with non‐syndromic deafness in Xiamen area, China

por Jiang, Yi, Gao, Song, Wu, Lihua, Jin, Xiaohua, Deng, Tao, Wang, Ligang, Huang, Shasha, Gao, Xue, Chen, Juan, Han, Dongyi, Gao, Huafang, Dai, Pu
Publicado 2017

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

por Shen, Yue, Wang, Hao, Liu, Zhimin, Luo, Minna, Ma, Siyu, Lu, Chao, Cao, Zongfu, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Li, Qian, Gao, Huafang, Peng, Yun, Xu, Baoping, Ma, Xu
Publicado 2020

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

por Luo, Minna, Cao, Li, Cao, Zongfu, Ma, Siyu, Shen, Yue, Yang, Di, Lu, Chao, Lin, Zaisheng, Liu, Zhimin, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Gao, Huafang, Wang, Xueyan, Cao, Muqing, Ma, Xu
Publicado 2019

Etiologic Diagnosis of Lower Respiratory Tract Bacterial Infections Using Sputum Samples and Quantitative Loop-Mediated Isothermal Amplification

por Kang, Yu, Deng, Rui, Wang, Can, Deng, Tao, Peng, Peichao, Cheng, Xiaoxing, Wang, Guoqing, Qian, Minping, Gao, Huafang, Han, Bei, Chen, Yusheng, Hu, Yinghui, Geng, Rong, Hu, Chengping, Zhang, Wei, Yang, Jingping, Wan, Huanying, Yu, Qin, Wei, Liping, Li, Jiashu, Tian, Guizhen, Wang, Qiuyue, Hu, Ke, Wang, Siqin, Wang, Ruiqin, Du, Juan, He, Bei, Ma, Jianjun, Zhong, Xiaoning, Mu, Lan, Cai, Shaoxi, Zhu, Xiangdong, Xing, Wanli, Yu, Jun, Deng, Minghua, Gao, Zhancheng
Publicado 2012