Results 71 to 80 of about 4,883 (118)

[Towards precision diagnosis and treatment: interpretation of the ten highlights of the expert consensus on the diagnosis and treatment of hereditary hyperbilirubinemia (version 2025)]. [PDF]

Zhonghua Gan Zang Bing Za Zhi
Hou W, Duan ZP, Zheng SJ.
europepmc   +1 more source

遗传性多发性骨软骨瘤致病基因EXT1和EXT2的多态性研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2011
【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
doaj  

[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban
Zhang H, Shan W, Yasheng M, Guan M.
europepmc   +1 more source

基于有限元和神经网络方法的弹簧触指结构优化设计

Gaoya dianqi
针对电气设备常见的电连接器——弹簧触指结构，提出了一种优化弹簧触指结构参数的方法。首先运用仿真软件Comsol Multiphysics建立弹簧触指结构模型，利用有限元方法进行接触压力和接触电阻计算，分析了簧丝直径、弹簧倾斜角、宽高比、弹簧圈数对性能参数的影响。以接触压力和接触电阻作为目标函数，利用遗传算法改进的BP神经网络模型，拟合了弹簧触指结构参数与目标函数之间的关系，从而对弹簧触指结构进行优化设计。在满足弹簧触指结构插拔力要求的条件下，减小弹簧触指结构的接触电阻，降低工作温度，改善了其电接触性能 ...
苏俊天, 淡淑恒
doaj  

[Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao
Zhang H, Gu C, Wang Q, Huang X, Ran Q, Ren Z, Liu Y, Luo Y, Pan S, Yang M, Ji J, Jin X.   +11 more
europepmc   +1 more source

[Research progress on lactylation modification in pathogenesis of osteoarthritis]. [PDF]

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi
Wu Y, Sun K, Ding Y, Li M, Liu Y, Wu L, Peng L, Shen B.   +7 more
europepmc   +1 more source

[Application of an interpretable neural network framework based on the LASSO-proj algorithm for warfarin dose prediction]. [PDF]

Sheng Wu Yi Xue Gong Cheng Xue Za Zhi
Zhong C, Zhu Y, Gu X.
europepmc   +1 more source

[Neonatal-onset multisystem inflammatory disease in a neonate caused by a <i>de novo</i><i>NLRP3</i> variant]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Gao FH, Tang ZF, Song JW, Zhang WB, Yang L.   +4 more
europepmc   +1 more source

[Treatment and Prospects of Focal Segmental Glomerulosclerosis]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Deng T, Wang W, Pu L, Hou Y, Wu C, Li G, Ye C.   +6 more
europepmc   +1 more source

[Role of m6A methylation modification in photoaging and ultraviolet-induced skin cancers]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Hou Y, Zhang X, Liu J, Wu J.
europepmc   +1 more source