全文获取类型
收费全文 | 2452篇 |
免费 | 161篇 |
国内免费 | 6篇 |
专业分类
耳鼻咽喉 | 9篇 |
儿科学 | 62篇 |
妇产科学 | 73篇 |
基础医学 | 442篇 |
口腔科学 | 66篇 |
临床医学 | 227篇 |
内科学 | 525篇 |
皮肤病学 | 49篇 |
神经病学 | 155篇 |
特种医学 | 54篇 |
外科学 | 258篇 |
综合类 | 36篇 |
一般理论 | 2篇 |
预防医学 | 204篇 |
眼科学 | 56篇 |
药学 | 194篇 |
中国医学 | 21篇 |
肿瘤学 | 186篇 |
出版年
2024年 | 4篇 |
2023年 | 34篇 |
2022年 | 38篇 |
2021年 | 172篇 |
2020年 | 83篇 |
2019年 | 114篇 |
2018年 | 125篇 |
2017年 | 84篇 |
2016年 | 99篇 |
2015年 | 84篇 |
2014年 | 120篇 |
2013年 | 171篇 |
2012年 | 245篇 |
2011年 | 242篇 |
2010年 | 117篇 |
2009年 | 77篇 |
2008年 | 121篇 |
2007年 | 146篇 |
2006年 | 97篇 |
2005年 | 96篇 |
2004年 | 78篇 |
2003年 | 69篇 |
2002年 | 78篇 |
2001年 | 12篇 |
2000年 | 10篇 |
1999年 | 13篇 |
1998年 | 14篇 |
1997年 | 9篇 |
1996年 | 11篇 |
1995年 | 9篇 |
1994年 | 5篇 |
1993年 | 6篇 |
1992年 | 9篇 |
1991年 | 3篇 |
1990年 | 2篇 |
1989年 | 3篇 |
1988年 | 3篇 |
1987年 | 3篇 |
1985年 | 2篇 |
1984年 | 3篇 |
1983年 | 1篇 |
1982年 | 1篇 |
1977年 | 1篇 |
1974年 | 2篇 |
1971年 | 3篇 |
排序方式: 共有2619条查询结果,搜索用时 46 毫秒
51.
Maries Joseph Taoufik Zoubeidi Sherina M. Al-Dhaheri Aysha Ahmed Al-Dhaheri Afra A. Al-Dhaheri Fatima M. Al-Kaabi 《The Journal of asthma》2013,50(2):175-178
Consanguinity is known to increase the burden of genetic disorders among offspring. However, the effect of consanguinity on a complex disorder like childhood asthma has not been studied previously. Therefore, we explored this relationship by studying the asthma prevalence in children between 6 and 14 years of age among the local Arab families of the United Arab Emirates (UAE) where consanguinity is known to be highly prevalent. A total of 1136 children from 295 families met our inclusion criteria. The prevalence of childhood asthma was higher among children in consanguineous families (43.3%) compared to non-consanguineous (22.6%, p < 0.001). There was a significant correlation between the degree of consanguinity and the number of asthmatic children per family (p = 0.0002). Girls from consanguineous families had proportionately more asthma (42.9%, p < 0.001) compared to boys (23.1%, p = 0.539).Paternal asthma in consanguineous families increased asthma risk for both boys and girls (p = 0.021 for boys, p < 0.001 for girls), while maternal asthma had no significant impact on asthma in offspring. Prevalence of childhood asthma was significantly higher in consanguineous families. The significant asthma predictors for girls from the consanguineous families were the degree of consanguinity and paternal asthma. The only predictor for boys was paternal asthma. These interesting observations merit further studies on both larger samples and in other consanguineous communities for confirmation. 相似文献
52.
53.
Lazzarini LC de Fatima do Amparo Teixeira M Souza Rodrigues R Marcos Nunes Valiante P 《Respiration; international review of thoracic diseases》2008,76(3):356-360
Necrotizing sarcoid granulomatosis (NSG) is a rare entity mainly characterized by a prominent granulomatous vasculitis affecting middle-aged or old individuals and with a favorable prognosis. Although many believe it is a variant of sarcoidosis, the proper classification is still a matter of debate as some of its features are found in sarcoidosis but also in Churg-Strauss syndrome, Wegener's disease and hypersensitivity pneumonitis. In this paper, we described for the first time a case of NSG in a family with several cases of sarcoidosis, reinforcing the relationship between NSG and sarcoidosis. Additional interesting findings were the young age of the patient (15 years old), the symptoms limited to the respiratory tract (uncommon when NSG affects youngsters) and the increase in serologic markers of autoimmune disease. Though complete criteria for autoimmune disease were not present, systemic lupus erythematosus and Sjogren's syndrome are possible candidates. As sarcoidosis is described to be associated with several autoimmune diseases, this finding is an additional suggestion of the relationship between both entities. 相似文献
54.
Conditional mineralocorticoid receptor expression in the heart leads to life-threatening arrhythmias
55.
56.
57.
Merel Klaassens Deborah Morrogh Elisabeth M Rosser Fatima Jaffer Maaike Vreeburg Levinus A Bok Tim Segboer Martine van Belzen Ros M Quinlivan Ajith Kumar Jane A Hurst Richard H Scott 《European journal of human genetics : EJHG》2015,23(5):610-615
De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall–Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear. 相似文献
58.
Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid‐type fibromatosis by whole‐exome sequencing and genomic analysis 下载免费PDF全文
Aimee M. Crago Juliann Chmielecki Mara Rosenberg Rachael O'Connor Caitlin Byrne Fatima G. Wilder Katherine Thorn Phaedra Agius Deborah Kuk Nicholas D. Socci Li‐Xuan Qin Matthew Meyerson Meera Hameed Samuel Singer 《Genes, chromosomes & cancer》2015,54(10):606-615
CTNNB1 mutations or APC abnormalities have been observed in ~85% of desmoids examined by Sanger sequencing and are associated with Wnt/β‐catenin activation. We sought to identify molecular aberrations in “wild‐type” tumors (those without CTNNB1 or APC alteration) and to determine their prognostic relevance. CTNNB1 was examined by Sanger sequencing in 117 desmoids; a mutation was observed in 101 (86%) and 16 were wild type. Wild‐type status did not associate with tumor recurrence. Moreover, in unsupervised clustering based on U133A‐derived gene expression profiles, wild‐type and mutated tumors clustered together. Whole‐exome sequencing of eight of the wild‐type desmoids revealed that three had a CTNNB1 mutation that had been undetected by Sanger sequencing. The mutation was found in a mean 16% of reads (vs. 37% for mutations identified by Sanger). Of the other five wild‐type tumors sequenced, two had APC loss, two had chromosome 6 loss, and one had mutation of BMI1. The finding of low‐frequency CTNNB1 mutation or APC loss in wild‐type desmoids was validated in the remaining eight wild‐type desmoids; directed miSeq identified low‐frequency CTNNB1 mutation in four and comparative genomic hybridization identified APC loss in one. These results demonstrate that mutations affecting CTNNB1 or APC occur more frequently in desmoids than previously recognized (111 of 117; 95%), and designation of wild‐type genotype is largely determined by sensitivity of detection methods. Even true CTNNB1 wild‐type tumors (determined by next‐generation sequencing) may have genomic alterations associated with Wnt activation (chromosome 6 loss/BMI1 mutation), supporting Wnt/β‐catenin activation as the common pathway governing desmoid initiation. © 2015 Wiley Periodicals, Inc. 相似文献
59.
Sara Huber Roland Lang Markus Steiner Lorenz Aglas Fatima Ferreira Michael Wallner Thomas Hawranek Gabriele Gadermaier 《Clinical and translational allergy》2018,8(1):39
Background
The clinical benefit of allergen-specific immunotherapy (AIT) involves induction of blocking antibodies. It is not clear if these antibodies function via steric hindrance alone or a combination of levels, avidities, and epitope specificities, and clinical outcome cannot be predicted. We aim to in-depth characterize serum antibody profiles during birch pollen AIT, investigate therapy-induced antibodies for their capacity to block IgE binding to Bet v 1 and correlate data with clinical outcomes.Methods
Immune responses of five birch pollen allergic patients were monitored during the first year of AIT by nasal provocation tests (NPTs), ImmunoCAP, immunoblots, direct and avidity enzyme-linked immunosorbent assays, mediator release assays, facilitated antigen binding (FAB) assays, and inhibition mediator release assays.Results
There was no correlation between NPT results and therapy-induced changes in levels (IgE, IgG, IgA, IgM), avidities, or mediator release potency of Bet v 1-specific antibodies. In FAB assays, blocking antibodies initiated upon AIT were shown to prevent formation of Bet v 1-IgE complexes of an indicator serum pool and significantly correlated with clinical readout. Inhibition mediator release assays using patient-specific IgE for passive sensitization revealed therapy-induced blocking capacities with very good correlation to NPT results. Notably, this assay was the only one to detect a non-responder during treatment in this pilot study.Conclusions
Clinical outcome of AIT depends on induction of blocking antibodies able to prevent the patient’s own IgE from allergen binding. Monitoring of clinical efficacy seems to be best achieved using the inhibition mediator release assay, as development of relevant blocking antibodies can be verified in a patient-tailored manner.60.
Munira Borhany Naveena Fatima Madiha Abid Tahir Shamsi Maha Othman 《Transfusion and apheresis science》2018,57(4):556-560