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排序方式: 共有1008条查询结果,搜索用时 15 毫秒
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42.
Miriam Araña Juan J. Gavira Estefanía Peña Arantxa González Gloria Abizanda Myriam Cilla Marta M. Pérez Edurne Albiasu Natalia Aguado Mayte Casado Begoña López Susana González Mario Soriano Cristina Moreno Juana Merino José M. García-Verdugo Javier Díez Manuel Doblaré Beatriz Pelacho Felipe Prosper 《Biomaterials》2014
Although transplantation of adipose-derived stem cells (ADSC) in chronic myocardial infarction (MI) models is associated with functional improvement, its therapeutic value is limited due to poor long-term cell engraftment and survival. Thus, the objective of this study was to examine whether transplantation of collagen patches seeded with ADSC could enhance cell engraftment and improve cardiac function in models of chronic MI. With that purpose, chronically infarcted Sprague–Dawley rats (n = 58) were divided into four groups and transplanted with media, collagen scaffold (CS), rat ADSC, or CS seeded with rat ADSC (CS-rADSC). Cell engraftment, histological changes, and cardiac function were assessed 4 months after transplantation. In addition, Göttingen minipigs (n = 18) were subjected to MI and then transplanted 2 months later with CS or CS seeded with autologous minipig ADSC (CS-pADSC). Functional and histological assessments were performed 3 months post-transplantation. Transplantation of CS-rADSC was associated with increased cell engraftment, significant improvement in cardiac function, myocardial remodeling, and revascularization. Moreover, transplantation of CS-pADSC in the pre-clinical swine model improved cardiac function and was associated with decreased fibrosis and increased vasculogenesis. In summary, transplantation of CS-ADSC resulted in enhanced cell engraftment and was associated with a significant improvement in cardiac function and myocardial remodeling. 相似文献
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44.
Live S. Nordhagen Ina Kreyberg Karen Eline S. Bains Kai-Håkon Carlsen Kari Glavin Håvard O. Skjerven Milada C. Småstuen Katarina Hilde Björn Nordlund Riyas Vettukattil Gunilla Hedlin Berit Granum Christine M. Jonassen Hrefna K. Gudmundsdóttir Guttorm Haugen Eva Maria Rehbinder Cilla Söderhäll Anne Cathrine Staff Karin C. Lødrup Carlsen PreventADALL study group 《Acta paediatrica (Oslo, Norway : 1992)》2020,109(12):2594-2603
45.
K L Russell J E Ming K Patel L Jukofsky M Magnusson I D Krantz 《American journal of medical genetics》2001,104(4):267-276
The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized. 相似文献
46.
Paloma Merino Jesús Guinea Irene Muñoz-Gallego Patricia González-Donapetry Juan Carlos Galán Nerea Antona Gustavo Cilla Silvia Hernáez-Crespo José Luis Díaz-de Tuesta Ana Gual-de Torrella Fernando González-Romo Pilar Escribano Miguel Ángel Sánchez-Castellano Mercedes Sota-Busselo Alberto Delgado-Iribarren Julio García Rafael Cantón Patricia Muñoz Mila Montes 《Clinical microbiology and infection》2021,27(5):758-761
ObjectivesThe standard RT-PCR assay for coronavirus disease 2019 (COVID-19) is laborious and time-consuming, limiting testing availability. Rapid antigen-detection tests are faster and less expensive; however, the reliability of these tests must be validated before they can be used widely. The objective of this study was to determine the performance of the Panbio? COVID-19 Ag Rapid Test Device (PanbioRT) (Abbott) in detecting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in nasopharyngeal swab specimens.MethodsThis prospective multicentre study was carried out in ten Spanish university hospitals and included individuals with clinical symptoms or epidemiological criteria of COVID-19. Only individuals with ≤7 days from the onset of symptoms or from exposure to a confirmed case of COVID-19 were included. Two nasopharyngeal samples were taken to perform the PanbioRT as a point-of-care test and a diagnostic RT-PCR test.ResultsAmong the 958 patients studied, 325 (90.5%) had true-positive results. The overall sensitivity and specificity for the PanbioRT were 90.5% (95%CI 87.5–93.6) and 98.8% (95%CI 98–99.7), respectively. Sensitivity in participants who had a threshold cycle (CT) < 25 for the RT-PCR test was 99.5% (95%CI 98.4–100), and in participants with ≤5 days of the clinical course it was 91.8% (95%CI 88.8–94.8). Agreement between techniques was 95.7% (κ score 0.90; 95%CI 0.88–0.93).ConclusionsThe PanbioRT performs well clinically, with even more reliable results for patients with a shorter clinical course of the disease or a higher viral load. The results must be interpreted based on the local epidemiological context. 相似文献
47.
Cilla S?derh?ll Izabella Baranowska K?rberg Hanh T T Thai Jia Cao Yougen Chen Xufeng Zhang Zu Shulu Loes F M van der Zanden Iris A L M van Rooij Louise Frisén Nel Roeleveld Ellen Markljung Ingrid Kockum Agneta Nordenskj?ld 《European journal of human genetics : EJHG》2015,23(4):516-522
Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported suggestive linkage in nine chromosomal regions. We have extended this analysis by including new families and additional markers using non-parametric linkage. The fine mapping analysis displayed an increased LOD score on chromosome 8q24.1 and 10p15 in altogether 82 families. On chromosome 10p15, with the highest LOD score, we further studied AKR1C2, AKR1C3 and AKR1C4 involved in steroid metabolism, as well as KLF6 expressed in preputial tissue from hypospadias patients. Mutation analysis of the AKR1C3 gene showed a new mutation, c.643G>A (p.(Ala215Thr)), in a boy with penile hypospadias. This mutation is predicted to have an impact on protein function and structure and was not found in controls. Altogether, we homed in on four chromosomal regions likely to harbor genes for hypospadias. Future studies will aim for studying regulatory sequence variants in these regions. 相似文献
48.
Binita M. Kamath Brian D. Thiel Xiaowu Gai Laura K. Conlin Pedro S. Munoz Joseph Glessner Dinah Clark Daniel M. Warthen Tamim H. Shaikh Ercan Mihci David A. Piccoli Struan F.A. Grant Hakon Hakonarson Ian D. Krantz Nancy B. Spinner 《Human mutation》2009,30(3):371-378
The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more accurately determine the deletion sizes; 2) identify and compare breakpoints; 3) establish genotype/phenotype correlations; and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95 kb to 14.62 Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95 kb and 4 Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome (AGS). The proximal and distal boundaries of these 11 deletions constitute a 5.4‐Mb region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1‐associated critical region, in which deletions do not confer findings other than those associated with AGS. The other 10 patients had deletions between 3.28 Mb and 14.62 Mb, which extended outside the critical region, and, notably, all of these patients had developmental delay. This group had other findings such as autism, scoliosis, and bifid uvula. We identified 47 additional polymorphic genome‐wide copy number variants (>20 SNPs), with 0 to 5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high‐resolution definition of genomic abnormalities. Hum Mutat 0,1–8, 2008. © 2008 Wiley‐Liss, Inc. 相似文献
49.
Ting-Han Wu Yu-Ning Lu Chia-Lung Chuang Chia-Lin Wu Ann-Shyn Chiang David E. Krantz Hui-Yun Chang 《Acta neuropathologica》2013,125(5):711-725
While a number of genome-wide association studies have identified microtubule-associated protein tau as a strong risk factor for Parkinson’s disease (PD), little is known about the mechanism through which human tau can predispose an individual to this disease. Here, we demonstrate that expression of human wild-type tau is sufficient to disrupt the survival of dopaminergic neurons in a Drosophila model. Tau triggers a synaptic pathology visualized by vesicular monoamine transporter-pHGFP that precedes both the age-dependent formation of tau-containing neurofibrillary tangle-like pathology and the progressive loss of DA neurons, thereby recapitulating the pathological hallmarks of PD. Flies overexpressing tau also exhibit progressive impairments of both motor and learning behaviors. Surprisingly, contrary to common belief that hyperphosphorylated tau could aggravate toxicity, DA neuron degeneration is alleviated by expressing the modified, hyperphosphorylated tauE14. Together, these results show that impairment of VMAT-containing synaptic vesicle, released to synapses before overt tauopathy may be the underlying mechanism of tau-associated PD and suggest that correction or prevention of this deficit may be appropriate targets for early therapeutic intervention. 相似文献