Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Qian-yi WU"'
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 18, Iss 4, Pp 272-277 (2018)
Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and
Externí odkaz:
https://doaj.org/article/931cf8d175b143b796787c37a7b93759
Autor:
Wen‐Jun Zhang, Tao Su, Wei-Wen Deng, Min‐Zhi Zhuang, Xiao-Rong Liu, Ting-Ting Ye, Meng Xu, Xing-Wang Song, Jie Wang, Long‐Shan Xie, Yong-Hong Yi, Na He, Qian‐Yi Wu, Bing-Mei Li, Wei-Ping Liao, Shao‐Ping Huang, Yi-Wu Shi, Xuan Guo
Publikováno v:
CNS Neuroscience & Therapeutics
Aims CHD4 gene, encoding chromodomain helicase DNA‐binding protein 4, is a vital gene for fetal development. In this study, we aimed to explore the association between CHD4 variants and idiopathic epilepsy. Methods Trios‐based whole‐exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e9aef620a0f65c89a70a3b14c3818f
http://europepmc.org/articles/PMC8446219
http://europepmc.org/articles/PMC8446219
Autor:
Xiang Li, Wen-Jun Bian, Xiao-Rong Liu, Jie Wang, Sheng Luo, Bing-Mei Li, Yong-Hong Yi, Qian-Yi Wu, Qiong-Xiang Zhai, Liang-Di Gao, Hai-Feng Zhang, Na He, Wei-Ping Liao
Publikováno v:
Epilepsy Research. 187:107036
BCOR gene, encoding a corepressor of BCL6, plays an important role in fetal development. BCOR mutations were previously associated with oculofaciocardiodental syndrome (OFCD or MCOPS2, OMIM# 300166). The BCOR protein is ubiquitously expressed in mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::569d52466cf5801a91ba4cbb5e1c198f
https://doi.org/10.1016/j.eplepsyres.2022.107036
https://doi.org/10.1016/j.eplepsyres.2022.107036
Publikováno v:
Contributions to Mineralogy and Petrology. 167
A coesite-bearing eclogite breccia is reported here for the first time at Yangkou in the Chinese Su–Lu ultrahigh-pressure (UHP) metamorphic belt. It is thrusted over a coesite-bearing coronitic eclogite and is gradational to a foliated eclogite at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef0d562dd1a8a4d248afcb5a577d2024
https://doi.org/10.1007/s00410-014-1013-7
https://doi.org/10.1007/s00410-014-1013-7