Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Liuyan Gao"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we fo
Externí odkaz:
https://doaj.org/article/895e750437aa4393a10099f8596f1cc3
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103127- (2023)
Developmental epileptic encephalopathy-47 (DEE47) is a nervous system disease characterized by the onset of intractable seizures that appear the first days or weeks after birth. FGF12 is the disease-causing gene of DEE47 that encodes a small cytoplas
Externí odkaz:
https://doaj.org/article/b80e3ed7173b487aa5a139b47efd7c6e
Autor:
Yufan Guo, Jianda Wang, ZhiLiang Wang, Yuting Lou, Wangyang Chen, Min Sheng, Ye Wang, Bijun Zhang, Liuyan Gao, Jianhua Feng
Publikováno v:
Stem Cell Research, Vol 52, Iss , Pp 102224- (2021)
Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. A recent stu
Externí odkaz:
https://doaj.org/article/4654e599eaf34594bc4dcf5ae1cc4b42
Publikováno v:
Science of Advanced Materials. 12:1341-1351
The durability of reinforced concrete structure will be threatened because of corrosion. In view of this situation, in this study, from the perspective of super hydrophobic to improve the durability of concrete materials, a high-performance super hyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffef51758590ef83259a59c3f3ff8e89
https://doi.org/10.1166/sam.2020.3825
https://doi.org/10.1166/sam.2020.3825
Autor:
Yufan Guo, Qunyan Su, Xueying Zhu, Jianda Wang, Yuting Lou, Pu Miao, Ye Wang, Bijun Zhang, Yuting Jin, Liuyan Gao, Xiaoxiao Xu, Wangyang Chen, Min Sheng, Jianhua Feng
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(3)
Giant axonal neuropathy (GAN) is a progressive disease that involves the peripheral and central nervous systems. This neurodegenerative disease is caused by variants in the GAN gene encoding gigaxonin, and is inherited in an autosomal recessive manne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df2e2500924a51f571933e5606bca001
https://pubmed.ncbi.nlm.nih.gov/34889507
https://pubmed.ncbi.nlm.nih.gov/34889507
Autor:
Yuting Lou, Min Sheng, Jianda Wang, Wangyang Chen, Yufan Guo, Jianhua Feng, ZhiLiang Wang, Bijun Zhang, Liuyan Gao, Ye Wang
Publikováno v:
Stem Cell Research, Vol 52, Iss, Pp 102224-(2021)
Early infantile epileptic encephalopathy 26 (EE26) is a form of epileptic encephalopathy, a heterogeneous group of severe childhood-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. A recent stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14aa25289de39152ccfe94e79a0f27f8
https://pubmed.ncbi.nlm.nih.gov/33607466
https://pubmed.ncbi.nlm.nih.gov/33607466
Autor:
Kai Zhang, Yuankai Zhu, Haifeng Hou, Haiying Cheng, Jianhua Feng, Qing Chen, Zexin Chen, Shuang Wu, Hong Zhang, Lin Chen, Liuyan Gao, Mei Tian, Jianfeng Ji
Publikováno v:
Journal of Nuclear Medicine. 58:1293-1299
PET with 18F-FDG has been used for presurgical localization of epileptogenic foci; however, in nonsurgical patients, the correlation between cerebral glucose metabolism and clinical severity has not been fully understood. The aim of this study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2faff03e5072918c237a8577d65ec3a0
https://doi.org/10.2967/jnumed.116.187492
https://doi.org/10.2967/jnumed.116.187492
Autor:
Yuankai Zhu, Jianhua Feng, Shuang Wu, Haifeng Hou, Jianfeng Ji, Kai Zhang, Qing Chen, Lin Chen, Haiying Cheng, Liuyan Gao, Zexin Chen, Hong Zhang, Mei Tian
Publikováno v:
Journal of Nuclear Medicine; Aug2017, Vol. 58 Issue 8, p1293-1299, 7p, 3 Diagrams, 4 Charts, 2 Graphs