Integrative analytical and statistical framework for optimization of multiplex qPCR detection of <i>TGFBI</i> mutations in refractive surgery candidates. [PDF]
J Zhejiang Univ Sci BGu Y +9 more
europepmc +1 more source
[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc +1 more source
[Efficacy and safety analysis of avapritinib in children with RUNX1::RUNX1T1 positive-acute myeloid leukemia with KIT mutations]. [PDF]
Zhonghua Xue Ye Xue Za ZhiZheng FY +5 more
europepmc +1 more source
中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究
Zhongshan Daxue xuebao. Yixue kexue ban, 2015 摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y ...
doaj
[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation]. [PDF]
Zhejiang Da Xue Xue Bao Yi Xue BanZhang H, Shan W, Yasheng M, Guan M.
europepmc +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 1992 用E-PTA负染色和锇酸（O3 O4）处理普通透射电镜方法结合形态计量和体视学分析年青（3个月）和老年（27个月）SD大鼠海马CA1区分子层突触结构,结果显示衰老时海马CA1区突触形态结构发生了一系列退行性和代偿性变化:单位体积的突触数量（Nv）,突触连接带总面积（Sv）明显减少,突触前终末内突触囊泡、线粒体数亦明显减少。突触后膜致密物厚度变薄,而突触接触带的平均长度则代偿性增大。突触间隙宽度,突触前终末剖面积,突触后终末棘器数无明显改变 ...
doaj
[Clinicopathological, Genomic Characteristics and Prognostic Analysis in 18 Cases of SMARCA4-deficient or SMARCA4-mutated Pulmonary Tumors]. [PDF]
Zhongguo Fei Ai Za ZhiLiu C +6 more
europepmc +1 more source
[Trastuzumab Deruxtecan for EGFR-mutant Lung Adenocarcinoma with Acquired High-level HER2 Amplification: A Case Report]. [PDF]
Zhongguo Fei Ai Za ZhiGe X, Chen H, Cui S.
europepmc +1 more source
大西洋经向翻转环流 (AMOC) 是气候系统的关键组成部分，对全球和区域气候具有重要的影响。古气候重建表明，AMOC在不同时间尺度上均发生过显著的变化，其驱动机制较为复杂。利用中等复杂程度的地球系统模型LOVECLIM1.3，本研究对过去80万年的古气候进行了瞬变模拟。结果显示，除轨道时间尺度上的变化外，缓慢变化的太阳辐射也可以触发AMOC的突变以及多百年变率。当北半球高纬夏季太阳辐射降低到一定的阈值时，通过拉布拉多海和北欧海的海冰-海洋相互作用，能够引起AMOC的突然减弱并伴随多百年际振荡 ...
Yin, Qiuzhen, CESS 2025
core
[<i>PIK3CA</i> Somatic Mutations Are Associated With Lymph Node Metastasis in Endometrial Cancer]. [PDF]
Sichuan Da Xue Xue Bao Yi Xue BanShen Q +5 more
europepmc +1 more source