全文获取类型
收费全文 | 1985篇 |
免费 | 133篇 |
国内免费 | 4篇 |
专业分类
耳鼻咽喉 | 24篇 |
儿科学 | 53篇 |
妇产科学 | 33篇 |
基础医学 | 357篇 |
口腔科学 | 17篇 |
临床医学 | 194篇 |
内科学 | 288篇 |
皮肤病学 | 13篇 |
神经病学 | 258篇 |
特种医学 | 93篇 |
外科学 | 194篇 |
综合类 | 5篇 |
预防医学 | 219篇 |
眼科学 | 72篇 |
药学 | 165篇 |
中国医学 | 1篇 |
肿瘤学 | 136篇 |
出版年
2023年 | 9篇 |
2022年 | 12篇 |
2021年 | 38篇 |
2020年 | 36篇 |
2019年 | 46篇 |
2018年 | 56篇 |
2017年 | 47篇 |
2016年 | 59篇 |
2015年 | 60篇 |
2014年 | 60篇 |
2013年 | 98篇 |
2012年 | 146篇 |
2011年 | 180篇 |
2010年 | 97篇 |
2009年 | 85篇 |
2008年 | 161篇 |
2007年 | 145篇 |
2006年 | 148篇 |
2005年 | 133篇 |
2004年 | 85篇 |
2003年 | 68篇 |
2002年 | 69篇 |
2001年 | 12篇 |
2000年 | 11篇 |
1999年 | 18篇 |
1998年 | 19篇 |
1997年 | 13篇 |
1996年 | 14篇 |
1995年 | 17篇 |
1994年 | 8篇 |
1993年 | 10篇 |
1992年 | 7篇 |
1991年 | 7篇 |
1990年 | 9篇 |
1989年 | 11篇 |
1988年 | 11篇 |
1987年 | 6篇 |
1986年 | 9篇 |
1985年 | 4篇 |
1980年 | 4篇 |
1977年 | 7篇 |
1966年 | 5篇 |
1965年 | 4篇 |
1963年 | 4篇 |
1956年 | 4篇 |
1948年 | 3篇 |
1937年 | 3篇 |
1934年 | 3篇 |
1932年 | 5篇 |
1930年 | 3篇 |
排序方式: 共有2122条查询结果,搜索用时 15 毫秒
91.
Ilse M. van der Werf Sandra Jansen Petra F. de Vries Amber Gerstmans Maartje van de Vorst Anke Van Dijck Bert B. A. de Vries Christian Gilissen Alexander Hoischen Lisenka E. L. M. Vissers R. Frank Kooy Geert Vandeweyer 《European journal of human genetics : EJHG》2020,28(12):1726
Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.Subject terms: Genetics research, Neurological disorders 相似文献
92.
Kline AD Griffin CA Haddadin MH Chudoba I Morsberger LA Hawkins AL Amato RS Munshi G Cohen MM 《American journal of medical genetics. Part A》2004,(2):124-129
We report a 4-year-old female with a de novo complex karyotype with multiple chromosomal rearrangements and a distinctive phenotype. Her medical history is significant for having been a twin born at 35 weeks gestation, breech presentation, with feeding problems and poor growth as an infant, gastroesophageal reflux disease, peripheral pulmonic stenosis, omphalocele, high myopia, and severe mental retardation. She is small for her age with microcephaly, posteriorly sloping forehead, shallow orbits, long palpebral fissures, prominent nose, wide mouth, absent uvula, kyphosis, brachydactyly, bridged palmar crease, and hypertonia. Peripheral blood lymphocytes revealed a karyotype of 46,XX,t(1;12)(p22.3;q21.3),inv(6)(p24q23),t(7;18)(q11.2;q21.2) in all cells. Parental karyotypes and that of her twin were normal. Spectral Karyotyping (SKY) and fluorescence in situ hybridization (FISH) with whole chromosome paints for chromosomes 1, 6, 7, 12, and 18 did not reveal additional rearrangements. Prometaphase G-banding analysis suggested that the "inverted" chromosome 6 might contain a cryptic rearrangement. Although no deletion nor duplication was detected using metaphase comparative genomic hybridization (CGH), multicolor high resolution banding (mBAND) demonstrated a double inversion of chromosome 6, resulting in a final karyotype as above but including der(6)(pter --> p23::q21 --> q22.3::q21 --> p23::q22.3 --> qter). 相似文献
93.
We aimed to investigate whether fear of suffocation predicts healthy persons' respiratory and affective responses to obstructed breathing as evoked by inspiratory resistive loads. Participants (N = 27 women, ages between 18 and 21 years) completed the Fear of Suffocation scale and underwent 16 trials in which an inspiratory resistive load of 15 cmH2O/l/s (small) or 40 cmH2O/l/s (large) was added to the breathing circuit for 40 s. Fear of suffocation was associated with higher arousal ratings for both loads. Loaded breathing was associated with a decrease in minute ventilation, but progressively less so for participants scoring higher on fear of suffocation when breathing against the large load. The present findings document a potentially panicogenic mechanism that may maintain and worsen respiratory discomfort in persons with fear of suffocation. 相似文献
94.
Meurs A Portelli J Clinckers R Balasubramaniam A Michotte Y Smolders I 《Neuroscience letters》2012,510(2):143-147
Neuropeptide Y's (NPY) anticonvulsant effect is generally attributed to its inhibitory effect on glutamate release from presynaptic nerve terminals, which is nicely demonstrated in in vitro settings. To date no study has attempted to investigate the effect of NPY in vivo on extracellular (EC) glutamate levels thus, via intracerebral microdialysis, we determined NPY's effect on hippocampal glutamate concentrations in vivo, and consequently the involvement of Y(1) receptors to this effect. NPY or the Y(1) agonist D-His26-NPY was intrahippocampally administered in rats for 2h, during which the hippocampal glutamate dialysate levels were monitored. Pilocarpine was subsequently co-administered with NPY or D-His26-NPY to determine their effect on pilocarpine-induced limbic seizures. Unexpectedly we noted that intrahippocampal administration of NPY or D-His26-NPY increased glutamate dialysate levels in a reproducible manner. NPY attenuated pilocarpine induced seizures, whereas D-His26-NPY did not. To clarify the role of Y(1) receptors in NPY's glutamatergic effect, NPY was co-administered with the selective Y(1) antagonist BVD10. Hippocampal Y(1) receptor blockade prevented the NPY-induced increase in hippocampal glutamate, proving that this induced glutamate increase is clearly Y(1) receptor mediated. This is the first evidence that NPY enhances hippocampal EC glutamate overflow in vivo via hippocampal Y(1) receptors without interfering with or contributing to NPY's anticonvulsant effect. Whilst this finding contrasts with the supposed glutamatergic hypothesis for NPY in the hippocampus, it is of significance to further assist in deciphering NPY's mechanisms of action in in vivo settings. 相似文献
95.
Hagen F Illnait-Zaragozí MT Meis JF Chew WH Curfs-Breuker I Mouton JW Hoepelman AI Spanjaard L Verweij PE Kampinga GA Kuijper EJ Boekhout T Klaassen CH 《Journal of clinical microbiology》2012,50(6):1918-1926
A set of 300 Dutch Cryptococcus neoformans isolates, obtained from 237 patients during 1977 to 2007, was investigated by determining the mating type, serotype, and AFLP and microsatellite genotype and susceptibility to seven antifungal compounds. Almost half of the studied cases were from HIV-infected patients, followed by a patient group of individuals with other underlying diseases and immunocompetent individuals. The majority of the isolates were mating type α and serotype A, followed by αD isolates and other minor categories. The most frequently observed genotype was AFLP1, distantly followed by AFLP2 and AFLP3. Microsatellite typing revealed a high genetic diversity among serotype A isolates but a lower diversity within the serotype D set of isolates. One patient was infected by multiple AFLP genotypes. Fluconazole and flucytosine had the highest geometric mean MICs of 2.9 and 3.5 μg/ml, respectively, while amphotericin B (0.24 μg/ml), itraconazole (0.08 μg/ml), voriconazole (0.07 μg/ml), posaconazole (0.06 μg/ml), and isavuconazole (0.03 μg/ml) had much lower geometric mean MICs. One isolate had a high flucytosine MIC (>64 μg/ml), while decreased susceptibility (≥16 μg/ml) for flucytosine and fluconazole was found in 9 and 10 C. neoformans isolates, respectively. 相似文献
96.
Coene KL Mans DA Boldt K Gloeckner CJ van Reeuwijk J Bolat E Roosing S Letteboer SJ Peters TA Cremers FP Ueffing M Roepman R 《Human molecular genetics》2011,20(18):3592-3605
Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as 'ciliopathies'. Ciliopathy-associated proteins have a common site of action in the cilium, however, their overall importance for ciliary function differs, as implied by the extreme variability in ciliopathy phenotypes. The aim of this study was to gain more insight in the function of two ciliopathy-associated protein homologs, RPGR interacting protein 1 (RPGRIP1) and RPGRIP1-like protein (RPGRIP1L). Mutations in RPGRIP1 lead to the eye-restricted disease Leber congenital amaurosis, while mutations in RPGRIP1L are causative for Joubert and Meckel syndrome, which affect multiple organs and are at the severe end of the ciliopathy spectrum. Using tandem affinity purification in combination with mass spectrometry, we identified Nek4 serine/threonine kinase as a prominent component of both the RPGRIP1- as well as the RPGRIP1L-associated protein complex. In ciliated cells, this kinase localized to basal bodies, while in ciliated organs, the kinase was predominantly detected at the ciliary rootlet. Down-regulation of NEK4 in ciliated cells led to a significant decrease in cilium assembly, pointing to a role for Nek4 in cilium dynamics. We now hypothesize that RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a Nek4 signaling network which regulates cilium stability. Our data are in line with previously established roles in the cilium of other members of the Nek protein family and define NEK4 as a ciliopathy candidate gene. 相似文献
97.
Beckers S Zegers D de Freitas F Mertens IL Van Gaal LF Van Hul W 《Molecular genetics and metabolism》2011,103(1):71-75
Recently, genome-wide association studies have discovered several single nucleotide polymorphisms (SNPs) involved in the etiology of complex obesity. A variant downstream from the melanocortin-4 receptor gene (MC4R), a gene known to be involved in monogenic obesity, was reported to be highly associated with BMI. In the present study, we performed a replication study with the previously reported SNP rs17782313. We also included 3 tagSNPs (rs8087522, rs11872992, and rs1943226) for the MC4R gene region in our study to understand the role of this gene in complex obesity. We genotyped all 4 SNPs in a population of 1049 obese cases (mean BMI=38.2±6.2) and 312 healthy lean individuals (mean BMI 22.0±1.7). We could confirm that rs17782313 is highly associated with complex obesity in our population (odds ratio=1.42, 95% CI 1.14-1.77, P=0.002). Furthermore, we found this SNP to be associated with BMI (B=0.92, 95% CI 0.19-1.65, P=0.01) and body weight (B=2.44, 95% CI 0.28-4.60, P=0.03). In addition, we could also detect an association between rs11872992 and complex obesity (odds ratio=0.74, 95% CI 0.57-0.98, P=0.03). Through conditional analysis, we demonstrate that this effect is independent from the rs17782313 association signal. No associations with obesity could be found for rs8087522 and rs1943226. In conclusion, we could replicate the previously reported association between rs17782313 and complex obesity. Furthermore, our data do not support the hypothesis that a SNP in MC4R causes the rs17782313 association signal. 相似文献
98.
Nele Jacobs Martin S. Hagger Sandra Streukens Ilse De Bourdeaudhuij Neree Claes 《British journal of health psychology》2011,16(1):113-134
Objectives The aim of the study was to test the relations between constructs from the self‐determination theory (autonomous and controlled motivation), the theory of planned behaviour (attitudes, self‐efficacy, and intentions), and behaviour change within a theoretically integrated model. Additionally, the aim was to test if these relations vary by behaviour (physical activity or dietary behaviour) or intervention intensity (frequency). Design. It was a randomized controlled trial with a ‘usual care’ condition (medical screening only) and an intervention condition (medical screening+access to a website and coaching). Participants in the latter condition could freely determine their own intervention intensity. Methods. Participants (N= 287) completed measures of the theoretical constructs and behaviour at baseline and after the first intervention year (N= 236). Partial least squares path modelling was used. Results. Changes in autonomous motivation positively predicted changes in self‐efficacy and intentions towards a healthy diet. Changes in controlled motivation positively predicted changes in attitudes towards physical activity, changes in self‐efficacy, and changes in behavioural intentions. The intervention intensity moderated the effect of self‐efficacy on intentions towards physical activity and the relationship between attitude and physical activity. Changes in physical activity were positively predicted by changes in intentions whereas desired changes in fat intake were negatively predicted by the intervention intensity. Conclusions Important relations within the theoretically integrated model were confirmed but others were not. Moderation effects were found for behaviour and intervention intensity. 相似文献
99.
Delfien Van Dyck Ilse De Bourdeaudhuij Greet Cardon Benedicte Deforche 《The international journal of behavioral nutrition and physical activity》2010,7(1):87
Background
Since physical activity levels in older adolescents have the potential to be increased by stimulating active transportation to school (ATS), the most important correlates of ATS should be determined before developing interventions, especially in those adolescents for whom the distance to school is feasible for active commuting. The main aims of this study were to determine criterion distances for ATS in Belgian older adolescents, to examine multidimensional correlates of ATS in adolescents living within a feasible distance from school and to investigate the associations of ATS with total physical activity and with other physical activities besides ATS. 相似文献100.