Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders

por Yuan, Haiming, Yuan, Huihua, Wang, Qingming, Ye, Wanhua, Yao, Ruixia, Xu, Wanfang, Liu, Yanhui
Publicado 2020

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review

por Fu, Youqing, Xu, Wanfang, Wang, Qingming, Lin, Yangyang, He, Peiqing, Liu, Yanhui, Yuan, Haiming
Publicado 2022

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8

por Yuan, Haiming, Wang, Qingming, Zeng, Xiumei, He, Peiqing, Xu, Wanfang, Guo, Hongmei, Liu, Yanhui, Lin, Yangyang
Publicado 2022

Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis

por Lou, Jiwu, Sun, Manna, Zhao, Ying, Ji, Zhisong, Liu, Fenghua, Li, Dongzhi, Xu, Wanfang, Lin, Yangyang, Liu, Yanhui
Publicado 2017

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

por Liu, Yanhui, Liu, Hailiang, He, Yi, Xu, Wanfang, Ma, Qiulin, He, Yuzhen, Lei, Wei, Chen, Guoquan, He, Zheng, Huang, Jiayi, Liu, Jianan, Liu, Yuanru, Huang, Quanfei, Yu, Fubing
Publicado 2020