全文获取类型
收费全文 | 4329篇 |
免费 | 120篇 |
国内免费 | 517篇 |
出版年
2022年 | 9篇 |
2021年 | 10篇 |
2020年 | 5篇 |
2019年 | 5篇 |
2018年 | 12篇 |
2017年 | 20篇 |
2016年 | 29篇 |
2015年 | 64篇 |
2014年 | 51篇 |
2013年 | 56篇 |
2012年 | 73篇 |
2011年 | 457篇 |
2010年 | 339篇 |
2009年 | 101篇 |
2008年 | 78篇 |
2007年 | 66篇 |
2006年 | 37篇 |
2005年 | 287篇 |
2004年 | 539篇 |
2003年 | 276篇 |
2002年 | 172篇 |
2001年 | 206篇 |
2000年 | 83篇 |
1999年 | 82篇 |
1998年 | 69篇 |
1997年 | 118篇 |
1996年 | 75篇 |
1995年 | 92篇 |
1994年 | 33篇 |
1993年 | 332篇 |
1992年 | 262篇 |
1991年 | 136篇 |
1990年 | 104篇 |
1989年 | 101篇 |
1988年 | 101篇 |
1987年 | 91篇 |
1986年 | 66篇 |
1985年 | 96篇 |
1984年 | 31篇 |
1983年 | 10篇 |
1981年 | 5篇 |
1980年 | 5篇 |
1977年 | 8篇 |
1962年 | 7篇 |
1957年 | 13篇 |
1956年 | 21篇 |
1955年 | 10篇 |
1943年 | 6篇 |
1924年 | 5篇 |
1923年 | 5篇 |
排序方式: 共有4966条查询结果,搜索用时 15 毫秒
251.
252.
253.
254.
W. Jonas V. Mileva‐Seitz A. W. Girard R. Bisceglia J. L. Kennedy M. Sokolowski M. J. Meaney A. S. Fleming M. Steiner ; on behalf of the MAVAN Research Team 《Genes, Brain & Behavior》2013,12(7):681-694
Mothers vary in duration of breastfeeding. These individual differences are related to a variety of demographic and individual maternal factors including maternal hormones, mood and early experiences. However, little is known about the role of genetic factors. We studied single‐nucleotide polymorphisms (SNPs) in the OXT peptide gene (rs2740210; rs4813627) and the OXT receptor gene (OXTR rs237885) in two samples of mothers from the Maternal adversity, Vulnerability and Neurodevelopment study (MAVAN), a multicenter (Hamilton and Montreal, Canada) study following mothers and their children from pregnancy until 7 years of age. Data from the Hamilton site was the primary sample (n = 201) and data from Montreal was the replication sample (n = 151). Breastfeeding duration, maternal mood (measured by the CES‐D scale) and early life adversity (measured by the CTQ scale) were established during 12 months postpartum. In our primary sample, polymorphisms in OXT rs2740210, but not the other SNPs, interacted with early life adversity to predict variation in breastfeeding duration (overall F8,125 = 2.361, P = 0.021; interaction effect b = ?8.12, t = ?2.3, P = 0.023) and depression (overall F8,118 = 5.751, P ≤ 0.001; interaction effect b = 6.06, t = 3.13, P = 0.002). A moderated mediation model showed that higher levels of depression mediated the inverse relation of high levels of early life adversity to breastfeeding duration, but only in women possessing the CC genotype [effect a′ = ?3.3401, 95% confidence interval (CI) = ?7.9466 to ?0.0015] of the OXT SNP and not in women with the AA/AC genotype (a′ = ?1.2942, ns). The latter findings (moderated mediation model) were replicated in our Montreal sample (a′ = ?0.277, 95% CI = ?0.7987 to ?0.0348 for CC; a′ = ?0.1820, ns for AA/AC) . 相似文献
255.
Irene Pichler Fabiola Del Greco M. Martin G?gele Christina M. Lill Lars Bertram Chuong B. Do Nicholas Eriksson Tatiana Foroud Richard H. Myers PD GWAS Consortium Michael Nalls Margaux F. Keller International Parkinson's Disease Genomics Consortium Wellcome Trust Case Control Consortium Beben Benyamin John B. Whitfield Genetics of Iron Status Consortium Peter P. Pramstaller Andrew A. Hicks John R. Thompson Cosetta Minelli 《PLoS medicine》2013,10(6)
Background
Although levels of iron are known to be increased in the brains of patients with Parkinson disease (PD), epidemiological evidence on a possible effect of iron blood levels on PD risk is inconclusive, with effects reported in opposite directions. Epidemiological studies suffer from problems of confounding and reverse causation, and mendelian randomization (MR) represents an alternative approach to provide unconfounded estimates of the effects of biomarkers on disease. We performed a MR study where genes known to modify iron levels were used as instruments to estimate the effect of iron on PD risk, based on estimates of the genetic effects on both iron and PD obtained from the largest sample meta-analyzed to date.Methods and Findings
We used as instrumental variables three genetic variants influencing iron levels, HFE rs1800562, HFE rs1799945, and TMPRSS6 rs855791. Estimates of their effect on serum iron were based on a recent genome-wide meta-analysis of 21,567 individuals, while estimates of their effect on PD risk were obtained through meta-analysis of genome-wide and candidate gene studies with 20,809 PD cases and 88,892 controls. Separate MR estimates of the effect of iron on PD were obtained for each variant and pooled by meta-analysis. We investigated heterogeneity across the three estimates as an indication of possible pleiotropy and found no evidence of it. The combined MR estimate showed a statistically significant protective effect of iron, with a relative risk reduction for PD of 3% (95% CI 1%–6%; p = 0.001) per 10 µg/dl increase in serum iron.Conclusions
Our study suggests that increased iron levels are causally associated with a decreased risk of developing PD. Further studies are needed to understand the pathophysiological mechanism of action of serum iron on PD risk before recommendations can be made. Please see later in the article for the Editors'' Summary 相似文献256.
Ocular Hypertension after Pediatric Cataract Surgery: Baseline Characteristics and First-Year Report
Haotian Lin Weirong Chen Lixia Luo Xinyu Zhang Jingjing Chen Zhuoling Lin Bo Qu Jiao Zhan Danying Zheng Xiaojian Zhong Zhen Tian Yizhi Liu for the Study Group of CCPMOH 《PloS one》2013,8(7)
Monitoring intraocular pressure (IOP) is essential for pediatric cataract treatment but always difficult due to lack of cooperation in young children. We present the baseline characteristics and the first-year results of a long-term prospective cohort study, which are aimed to determine the relationship of the incidence of ocular hypertension (OH) in children after cataract surgery during the first-year period and the risk of developing late-onset glaucoma. Children were included with the following criteria: they were≤10 years old and scheduled to undergo cataract surgery with/without intraocular lens implantation; they were compliant with our follow-up protocol, which included monitoring IOP using a Tono-Pen under sedation or anesthesia. Incidence of OH, peak OH value, OH onset time and OH duration within a 12-month period following surgery were measured. In brief, 206 patients (379 eyes) were included and OH developed in 66 of 379 (17.4%) eyes. The mean follow-up period was 14.0±3.2 months (median, 12 months; range, 10–16 months). Moreover, 33 of 196 (16.8%) aphakic eyes and 33 of 183 (18.0%) IOL eyes were diagnosed with OH. The peak OH onset times were at 1-week (34/66, 51.5%) and 1-month (14/66, 21.2%) appointments postsurgery. The peak IOP value in the OH eyes was 29.9±7.5 mmHg (median, 29 mmHg; range, 21–48 mmHg). The duration of OH was 30.9±31.2 days (median, 30 days; range, 3–150 days). OH recurred in 13 eyes with a history of OH diagnosed within 1 month postsurgery (13/54, 24.1%), which needed temporary or long term use of antiglaucoma medications. In conclusion, the incidence of OH in children after cataract surgery was 17.4% during the first-year period. Children who have suffered elevated IOP in the first year after cataract surgery should be followed closely to determine if there is an increased risk of developing late-onset glaucoma. 相似文献
257.
Michael?R. Knowles Margaret?W. Leigh Lawrence?E. Ostrowski Lu Huang Johnny?L. Carson Milan?J. Hazucha Weining Yin Jonathan?S. Berg Stephanie?D. Davis Sharon?D. Dell Thomas?W. Ferkol Margaret Rosenfeld Scott?D. Sagel Carlos?E. Milla Kenneth?N. Olivier Emily?H. Turner Alexandra?P. Lewis Michael?J. Bamshad Deborah?A. Nickerson Jay Shendure Maimoona?A. Zariwala the Genetic Disorders of Mucociliary Clearance?Consortium 《American journal of human genetics》2013,92(1):99-106
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 14 genes, but they collectively account for only ∼60% of all PCD. To identify mutations that cause PCD, we performed exome sequencing on six unrelated probands with ciliary outer dynein arm (ODA) defects. Mutations in CCDC114, an ortholog of the Chlamydomonas reinhardtii motility gene DCC2, were identified in a family with two affected siblings. Sanger sequencing of 67 additional individuals with PCD with ODA defects from 58 families revealed CCDC114 mutations in 4 individuals in 3 families. All 6 individuals with CCDC114 mutations had characteristic oto-sino-pulmonary disease, but none had situs abnormalities. In the remaining 5 individuals with PCD who underwent exome sequencing, we identified mutations in two genes (DNAI2, DNAH5) known to cause PCD, including an Ashkenazi Jewish founder mutation in DNAI2. These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders. 相似文献
258.
Yi-Juan Hu Sonja?I. Berndt Stefan Gustafsson Andrea Ganna Genetic Investigation of ANthropometric Traits Consortium Joel Hirschhorn Kari E. North Erik Ingelsson Dan-Yu Lin 《American journal of human genetics》2013,93(2):236-248
Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying “causal” rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are performed at the gene level rather than at the variant level poses unprecedented challenges in the meta-analysis. First, different studies may adopt different gene-level tests, so the results are not compatible. Second, gene-level tests require multivariate statistics (i.e., components of the test statistic and their covariance matrix), which are difficult to obtain. To overcome these challenges, we propose to perform gene-level tests for rare variants by combining the results of single-variant analysis (i.e., p values of association tests and effect estimates) from participating studies. This simple strategy is possible because of an insight that multivariate statistics can be recovered from single-variant statistics, together with the correlation matrix of the single-variant test statistics, which can be estimated from one of the participating studies or from a publicly available database. We show both theoretically and numerically that the proposed meta-analysis approach provides accurate control of the type I error and is as powerful as joint analysis of individual participant data. This approach accommodates any disease phenotype and any study design and produces all commonly used gene-level tests. An application to the GWAS summary results of the Genetic Investigation of ANthropometric Traits (GIANT) consortium reveals rare and low-frequency variants associated with human height. The relevant software is freely available. 相似文献
259.
目的比较原代宁乡花猪与其第一代仔猪血液生理生化指标的变化。方法常规方法测定宁乡花猪F0代16头,F1代16头血液18项生理指标和13项生化指标。结果F0代与F1代部分血液生理指标如白细胞(WBC)、红细胞(RBC)、血红蛋白(HGB)、红细胞积压(HCT)等13项有显著性差异(P〈0.05);部分血液生化指标如总胆红素(TBIL),尿素氮(BUN),总蛋白(TP),白/球蛋白(ALB/GLB),葡萄糖(GLU),有显著性差异(P〈0.05);其他指标均无统计学差异。结论2代宁乡花猪之间部分血液生理生化指标有显著性差异。得到的数据可以为实验动物化研究提供相应的基础生理参考数据。 相似文献
260.
Pauline Scherdel Jean-Fran?ois Salaün Marie-No?lle Robberecht-Riquet Laura Reali Gabriella Páll Elke J?ger-Roman Manuel Praena Crespo Marilena Moretto Margareta Seher-Zupan?i? Sigurlaug Agustsson the European Confederation of Primary Care Paediatricians research group Martin Chalumeau 《PloS one》2013,8(8)