Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Shu-Jian Li"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Objective Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre‐ and postnatal growth re
Externí odkaz:
https://doaj.org/article/3631a4e68aa84e38b3731296e20bfad5
Publikováno v:
Brain and Behavior, Vol 11, Iss 12, Pp n/a-n/a (2021)
Abstract Objective Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated as spastic paraplegia 18 (SPG18). To date, SPG18 families/cases are still rarely reported. All early reported cases shared the autosomal recessive (AR)
Externí odkaz:
https://doaj.org/article/d84d045ea6624158b64b95929ead0435
Publikováno v:
Energy Science & Engineering, Vol 7, Iss 3, Pp 868-880 (2019)
Abstract In this paper, we investigated the mechanics and permeation properties of the raw coal sample during loading and unloading process, and come to some conclusions: the permeability of the sample increases nonlinearly during the unloading confi
Externí odkaz:
https://doaj.org/article/6cb0704924a34c72bf8969bf68666ce8
Autor:
Xin-Yi Qiu, Peng-Nan Li, Ling-yan Tang, Chang-ping Li, Qiu-Lin Niu, Shu-Jian Li, Si-wen Tang, Tae Jo Ko
Publikováno v:
Journal of Manufacturing Processes. 83:246-256
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e52f10ef2433fbfd9e1202190a199098
https://doi.org/10.1016/j.jmapro.2022.09.002
https://doi.org/10.1016/j.jmapro.2022.09.002
Publikováno v:
Neurological Sciences. 43:1-9
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare genetic leukoencephalopathy caused by duplication of the lamin B1 gene (LMNB1) or LMNB1 upstream deletions. Neuronal intranuclear inclusion disease (NIID) is another leukoencephalopathy d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374f58e5236674af85dbbe9274947306
https://doi.org/10.1007/s10072-022-06057-0
https://doi.org/10.1007/s10072-022-06057-0
Publikováno v:
Neurological Sciences. 43:3983-3987
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f87f2b45c5583efbbed8afe958d41ccf
https://doi.org/10.1007/s10072-022-05996-y
https://doi.org/10.1007/s10072-022-05996-y
Publikováno v:
Royal Society Open Science, Vol 5, Iss 10 (2018)
Measurement of in situ stress is critical to understand the deformation and destruction of the underground space surrounding rock, and dynamic disaster of the coal mine. At present, with the increasing depth of mining, in situ stress parameters are m
Externí odkaz:
https://doaj.org/article/4997dc79d1934a7284e250d3086aa415
Publikováno v:
Huan jing ke xue= Huanjing kexue. 43(1)
Taking Wuding River as the research object, the study explored the hydrochemical characteristics and discussed the source of solute and control factors of groundwater and surface water in the basin, in order to provide a reference for water quality m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4655cdb01e021ca9afcfe95e0c70ff5
https://pubmed.ncbi.nlm.nih.gov/34989506
https://pubmed.ncbi.nlm.nih.gov/34989506
Publikováno v:
Journal of Electronics & Information Technology. 30:652-655
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35ecfa13351d4889ca7ac3ea97e5f5c6
https://doi.org/10.3724/sp.j.1146.2006.01194
https://doi.org/10.3724/sp.j.1146.2006.01194
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(5)
To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability.By using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9422ce75e0b4e440bc8136c7d6838c8b
https://pubmed.ncbi.nlm.nih.gov/21983727
https://pubmed.ncbi.nlm.nih.gov/21983727