首页 | 本学科首页   官方微博 | 高级检索  
文章检索
  按 检索   检索词:      
出版年份:   被引次数:   他引次数: 提示:输入*表示无穷大
  收费全文   1257篇
  免费   136篇
  国内免费   22篇
  2024年   8篇
  2023年   61篇
  2022年   70篇
  2021年   102篇
  2020年   64篇
  2019年   71篇
  2018年   80篇
  2017年   49篇
  2016年   53篇
  2015年   49篇
  2014年   108篇
  2013年   154篇
  2012年   63篇
  2011年   55篇
  2010年   33篇
  2009年   34篇
  2008年   44篇
  2007年   49篇
  2006年   28篇
  2005年   35篇
  2004年   38篇
  2003年   19篇
  2002年   21篇
  2001年   14篇
  2000年   10篇
  1999年   11篇
  1998年   10篇
  1997年   9篇
  1996年   10篇
  1995年   7篇
  1994年   5篇
  1993年   8篇
  1992年   6篇
  1991年   3篇
  1990年   5篇
  1989年   1篇
  1988年   1篇
  1987年   5篇
  1986年   2篇
  1985年   3篇
  1984年   5篇
  1983年   2篇
  1982年   3篇
  1981年   3篇
  1980年   1篇
  1978年   1篇
  1976年   1篇
  1975年   1篇
排序方式: 共有1415条查询结果,搜索用时 484 毫秒
1.
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil.  相似文献   
2.
Sulfoconjugates occur ubiquitously as sulfopolysaccharides, sulfolipids and sulfoproteins. A variety of sulfotransferases catalyze the sulfation process with 3’-phosphoadenosine 5’-phosphosulfate as the sulfate donor. Sulfatases that catalyze the desulfation of different sulfoconjugates are known to be deficient in a number of genetic storage disorders.  相似文献   
3.
The wake and sleep-onset times of a patient with a sleep-wake cycle longer than 24 hr were recorded by the patient for 4 years. During this time, the patient found himself unable to maintain a 24-hr sleep-wake schedule. When treated with 1-2 mg clonazepam, taken nightly, he was able to become entrained to a 24-hr day. Despite entrainment of his sleep-wake cycle, the patient reported depression, lack of motivation and fatigue and chose not to continue taking the drug.  相似文献   
4.
5.
Emotions can be explained as specialized states, shaped by natural selection, that increase fitness in specific situations. The physiological, psychological, and behavioral characteristics of a specific emotion can be analyzed as possible design features that increase the ability to cope with the threats and opportunities present in the corresponding situation. This approach to understanding the evolutionary functions of emotions is illustrated by the correspondence between (a) the subtypes of fear and the different kinds of threat; (b) the attributes of happiness and sadness and the changes that would be advantageous in propitious and unpropitious situations; and (c) the social emotions and the adaptive challenges of reciprocity relationships. In addition to addressing a core theoretical problem shared by evolutionary and cognitive psychology, explicit formulations of the evolutionary functions of specific emotions are of practical importance for understanding and treating emotional disorders.  相似文献   
6.
Megakaryocytes from normal persons and from patients with immune thrombocytopenic purpura, myelodysplastic disorders, Hypersplenism, and essential thrombocythemia displayed vivid magenta metachromatic staining of the cytoplasm when stained with basic black MSP followed by brief exposure to dilute hydrochloric acid. Under the same conditions, other hematopoietic cells were completely decolorized. Acid fast metachromasia of megakaryocytes facilitates their identification, particularly in cases of small and atypical megakaryocytes found in disease states.  相似文献   
7.
The concentrations of a number of elements are determined in the plasma and erythrocytes of 21 Nigerians (11 females, 10 males) with symptomatic affective disorders (11 depressives, 10 manics) and in 40 normal controls using proton-induced X-ray emission (PIXE) analysis. The study shows that there is significant elevation of plasma K and Zn, as well as the erythrocyte S in the patients relative to the controls. The plasma and erythrocyte Cu, and the erythrocyte P, Ca, Fe, and Zn are significantly lower in the patients compared to the controls. However, the plasma levels of Ca, S, Fe, and Br are similar in both the patients and the controls. Similarly, the concentrations of K, Br, and Rb show no significant difference in the erythrocytes of patients and controls.  相似文献   
8.
9.
嗜黏蛋白阿克曼氏菌(Akkermansia muciniphila, AKK)可促进肠道黏液分泌,维持肠道黏液动态平衡,调节肠黏膜屏障功能,在机体代谢调节、免疫应答中发挥重要作用。AKK对肠道炎症、神经炎症、机体代谢紊乱和癌症等疾病具有显著改善作用,被视为极具潜力的下一代益生菌。本文分别从消化系统、神经系统、代谢性紊乱和癌症等角度入手,系统概述AKK在疾病治疗中的潜力及作用分子机制。  相似文献   
10.
Type 2 diabetes (T2D) and Alzheimer's disease (AD) are two global epidemics that share several metabolic defects, such as insulin resistance, impaired glucose metabolism, and mitochondrial defects. Importantly, strong evidence demonstrates that T2D significantly increases the risk of cognitive decline and dementia, particularly AD. Here, we provide an overview of the metabolic defects that characterize and link both pathologies putting the focus on mitochondria. The biomarker potential of mitochondrial components and the therapeutic potential of some drugs that target and modulate mitochondria are also briefly discussed.  相似文献   
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号