全文获取类型
收费全文 | 3909篇 |
免费 | 492篇 |
国内免费 | 135篇 |
专业分类
耳鼻咽喉 | 16篇 |
儿科学 | 168篇 |
妇产科学 | 43篇 |
基础医学 | 1335篇 |
口腔科学 | 84篇 |
临床医学 | 271篇 |
内科学 | 778篇 |
皮肤病学 | 102篇 |
神经病学 | 447篇 |
特种医学 | 30篇 |
外国民族医学 | 1篇 |
外科学 | 155篇 |
综合类 | 337篇 |
预防医学 | 178篇 |
眼科学 | 49篇 |
药学 | 237篇 |
1篇 | |
中国医学 | 44篇 |
肿瘤学 | 260篇 |
出版年
2024年 | 2篇 |
2023年 | 129篇 |
2022年 | 88篇 |
2021年 | 166篇 |
2020年 | 214篇 |
2019年 | 213篇 |
2018年 | 169篇 |
2017年 | 192篇 |
2016年 | 174篇 |
2015年 | 186篇 |
2014年 | 237篇 |
2013年 | 280篇 |
2012年 | 172篇 |
2011年 | 221篇 |
2010年 | 168篇 |
2009年 | 174篇 |
2008年 | 166篇 |
2007年 | 166篇 |
2006年 | 179篇 |
2005年 | 142篇 |
2004年 | 132篇 |
2003年 | 113篇 |
2002年 | 118篇 |
2001年 | 89篇 |
2000年 | 72篇 |
1999年 | 66篇 |
1998年 | 41篇 |
1997年 | 48篇 |
1996年 | 59篇 |
1995年 | 51篇 |
1994年 | 40篇 |
1993年 | 41篇 |
1992年 | 32篇 |
1991年 | 22篇 |
1990年 | 26篇 |
1989年 | 23篇 |
1988年 | 12篇 |
1987年 | 17篇 |
1986年 | 13篇 |
1985年 | 20篇 |
1984年 | 13篇 |
1983年 | 8篇 |
1982年 | 12篇 |
1981年 | 4篇 |
1980年 | 8篇 |
1979年 | 5篇 |
1978年 | 4篇 |
1977年 | 3篇 |
1976年 | 3篇 |
1971年 | 1篇 |
排序方式: 共有4536条查询结果,搜索用时 15 毫秒
1.
2.
3.
4.
《Brain & development》2021,43(10):1023-1028
BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients with a mild phenotype with AADC deficiency have been reported, but they number only a few cases. Therefore, the variation of phenotypes of the disease appears to be broad, and it may be challenging to diagnose an atypical phenotype as AADC deficiency.Case reportWe report novel compound heterozygous variants in DDC (c.202G > A and c.254C > T) in two sisters, whose main complaint was mild developmental delay, by whole-exome sequencing (WES). Additionally, we describe their clinical features and provide an image that shows the variants located at different sites responsible for the catalysis of AADC in a three-dimensional structure. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis.InterpretationOur cases indicate that a comprehensive genomic approach helps to diagnose AADC deficiency with atypical features, and underscore the significance of understanding the variations of this disorder for diagnosis and appropriate treatment. 相似文献
5.
6.
B. Kowall N. Lehmann A.A. Mahabadi S. Moebus R. Erbel K.H. Jöckel A. Stang 《Nutrition, metabolism, and cardiovascular diseases : NMCD》2019,29(3):228-235
Background and aims
There is controversy on the potentially benign nature of metabolically healthy obesity (MHO), i.e., obese persons with few or no metabolic abnormalities. So far, associations between MHO and coronary artery calcification (CAC), a measure of subclinical atherosclerosis, have mainly been studied cross-sectionally in Asian populations. We assessed cross-sectional and longitudinal MHO CAC associations in a Caucasian population.Methods and results
In the Heinz Nixdorf Recall Study, a population-based cohort study in Germany, CAC was assessed by electron-beam tomography at baseline and at 5-year follow-up. For cross-sectional and longitudinal analyses, we included 1585 participants free of coronary heart disease at baseline, with CAC measurements at baseline and at follow-up, and with either normal weight (BMI 18.5–24.9 kg/m2) or obesity (BMI ≥30.0 kg/m2) at baseline. We used four definitions of MHO. In our main analysis, we defined obese persons as metabolically healthy if they met ≤1 of the NCEP ATP III criteria for the definition of the metabolic syndrome – waist circumference was not taken into account because of collinearity with BMI.Persons with MHO had a higher prevalence of CAC than metabolically healthy normal weight (MHNW) persons (prevalence ratio = 1.59 (95% confidence interval 1.38–1.84) for the main analysis). Persons with MHO had slightly larger odds of CAC progression than persons with MHNW (odds ratios ranged from 1.17 (0.69–1.99) to 1.48 (1.02–2.13) depending on MHO definition and statistical approach).Conclusion
Our analyses on MHO CAC associations add to the evidence that MHO is not a purely benign health condition. 相似文献7.
8.
9.
Kishor Devalaraja-Narashimha Karoline Meagher Yifan Luo Cong Huang Theodore Kaplan Anantharaman Muthuswamy Gabor Halasz Sarah Casanova John OBrien Rebecca Peyser Boiarsky John McWhirter Hans Gartner Yu Bai Scott MacDonnell Chien Liu Ying Hu Adrianna Latuszek Yi Wei Srinivasa Prasad Tammy Huang George Yancopoulos Andrew Murphy William Olson Brian Zambrowicz Lynn Macdonald Lori G. Morton 《Journal of the American Society of Nephrology : JASN》2021,32(1):99
10.
《Taiwanese journal of obstetrics & gynecology》2020,59(6):910-915
ObjectiveTo retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these fetuses.Materials and methods490 fetuses with chromosomal polymorphisms among 9996 pregnant women who underwent prenatal cytogenetic diagnosis were included in this study and were set as group 1. Other 500 pregnant women, whose fetuses were with normal karyotypes, were randomly selected from the remaining pregnant women and set as group 2. Clinical information and outcomes and maternal serum screening results of group 1 were compared with group 2.ResultsThe frequency of fetal chromosomal polymorphism was 4.90% (490/9996). The most common variants observed were 1/9/16 qh± (2.27%, 227/9996), followed by inv(9) (0.90%, 90/9996). 94.62% (264/279) of fetal chromosomal variants were inherited from parents. No statistical difference was found in clinical information and outcomes and maternal serum screening results between group 1 and group 2.ConclusionThe fetus with chromosomal polymorphism has no impact on serum markers of second trimester screening and does not play an important role for the clinical outcome of the current pregnancy either, whether it is inherited from the parents or a de novo mutation. 相似文献