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61.
Berry V; Ionides AC; Moore AT; Plant C; Bhattacharya SS; Shiels A 《Human molecular genetics》1996,5(3):415-419
Inherited cataract is a clinically and genetically heterogeneous disease.
Here we report the identification of a new locus for an autosomal dominant
anterior polar cataract on the short arm of chromosome 17. To map this new
locus we performed genetic linkage analysis with microsatellite markers in
a four-generation pedigree. After exclusion of seven candidate loci for
cataract, we obtained significant positive LOD scores for markers D17S849
(Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint
analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these
two markers. From haplotype analysis, the cataract locus lies in the 13 cM
interval between markers D17S849 and D17S796. This study provides the first
genetic mapping of an autosomal dominant anterior polar cataract.
相似文献
62.
63.
Ann. Hum. Genet . (1999), 63 , 473–482
Correction
The authors wish to add the following correction to this paper:
The genomic organization of the human organic cation transporter (hOCT1/SLC22A1) has recently been described by us to consist of 7 exons [Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1( hOCT1 / SLC22A1 ); Ann. Hum. Genet . 63 : 473–482]. A reexamination revealed 11 exons instead of 7. The mistake occurred through cDNA contamination. The corrected gene structure of the hOCT1 gene is available at EMBL under the following accession numbers:
AJ243995 (Exon 1), AJ243996 (Exon 2), AJ276051 (Exon 3), AJ276052 (Exon 4), AJ276053 (Exon 5 and 6), AJ245460 (Exon 7), AJ243998 (Exon 8), AJ243999 (Exon 9 and 10) and AJ244000 (Exon 11). 相似文献
Correction
The authors wish to add the following correction to this paper:
The genomic organization of the human organic cation transporter (hOCT1/SLC22A1) has recently been described by us to consist of 7 exons [Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1( hOCT1 / SLC22A1 ); Ann. Hum. Genet . 63 : 473–482]. A reexamination revealed 11 exons instead of 7. The mistake occurred through cDNA contamination. The corrected gene structure of the hOCT1 gene is available at EMBL under the following accession numbers:
AJ243995 (Exon 1), AJ243996 (Exon 2), AJ276051 (Exon 3), AJ276052 (Exon 4), AJ276053 (Exon 5 and 6), AJ245460 (Exon 7), AJ243998 (Exon 8), AJ243999 (Exon 9 and 10) and AJ244000 (Exon 11). 相似文献
64.
Volumetric rendering techniques: applications for three-dimensional imaging of the hip 总被引:1,自引:0,他引:1
Fishman EK; Drebin B; Magid D; Scott WW Jr; Ney DR; Brooker AF Jr; Riley LH Jr; St. Ville JA; Zerhouni EA; Siegelman SS 《Radiology》1987,163(3):737-738
Volumetric rendering is a new approach to three-dimensional (3D) imaging that overcomes many of the drawbacks of currently available surface-rendering systems. Its application on the Pixar Imaging System in two cases of acetabular fracture was assessed to illustrate the features of the technique. The fast-computing architecture and large memory of this system allow rapid generation of a series of high-quality 3D images in each plane of rotation (x or spinal axis, z or somersaulting axis) that can be viewed as independent static images or as an animated real-time video loop. Editing to remove the normal contralateral hemipelvis enhances appreciation of acetabular abnormalities. Every pixel of computed tomographic data is preserved, allowing representation of both soft tissue and bone as translucent overlap. The presentation of data also allows detection of subtle abnormalities and features and minimizes the artifact generation common in surface-rendered images. 相似文献
65.
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67.
The incidence of thromboembolitic events in patients undergoing transfemoral angiography was examined using indium-111 labeled platelets. Twenty-seven patients received approximately 300 muCi of autologous labeled platelets at least 3 hours before angiography and were scanned with a gamma camera immediately before and after angiography. All patients were free of clinically obvious complications in the 1-2 day period after angiography. Our results showed evidence of platelet deposition at 21 sites other than the puncture site in 12 (44%) patients. Most platelet deposition (54%) occurred along the region between the puncture site and the aortic bifurcation; 24% occurred at sites not traversed by the catheter. At the puncture site itself, there was substantial platelet uptake in 44% of patients. This study indicates the need for further work in determining the most suitable catheter material and in assessing the efficacy of other measures such as anticoagulant or antiplatelet therapy. 相似文献
68.
老年大鼠松质骨骨重建的组织形态计量学研究 总被引:1,自引:0,他引:1
目的:研究老年大鼠及在促骨合成药前列腺素E2(PGE2)作用下松质骨骨重建和骨建造的形态计量学改变,探讨动物骨重建形态学新参数测量方法及其意义。方法:50只20月龄雄性Wistar大鼠随机分成5组,年龄对照组(基础组、10d和30d年龄对照组),PGE2给药组(分别10d和30d给予3mg/kg/d处理组)。用体内双荧光标记,不脱钙组织切片,粘合线(cement line)染色,骨组织形态计量学方法,测定骨重建和骨建造参数。结果:20月龄雄性大鼠胫骨近端松质骨的形成表面大多数为骨重建单位(占63.3%),少部分为骨建造单位(占26.7%);PGE2用药后骨重建单位增加1.5倍,骨建造单位增加4倍,比值倒置,成骨细胞10d时明显增多。说明PGE2通过刺激成骨细胞骨合成而介民导骨建造性骨增加和骨重建性骨量增加,并以前为主。结论:老年雄性大鼠 松质骨以骨重建活动为主,仍有骨建造活动。PGE2主要通过刺激成骨细胞骨建造而增加骨量。 相似文献
69.
I. A. NÆSS S. C. CHRISTIANSEN† P. ROMUNDSTAD‡ S. C. CANNEGIETER† F. R. ROSENDAAL†§ J. HAMMERSTRØM 《Journal of thrombosis and haemostasis》2007,5(4):692-699
Background: Estimates of the incidence of venous thrombosis (VT) vary, and data on mortality are limited. Objectives: We estimated the incidence and mortality of a first VT event in a general population. Methods: From the residents of Nord‐Trøndelag county in Norway aged 20 years and older (n = 94 194), we identified all cases with an objectively verified diagnosis of VT that occurred between 1995 and 2001. Patients and diagnosis characteristics were retrieved from medical records. Results: Seven hundred and forty patients were identified with a first diagnosis of VT during 516 405 person‐years of follow‐up. The incidence rate for all first VT events was 1.43 per 1000 person‐years [95% confidence interval (CI): 1.33–1.54], that for deep‐vein thrombosis (DVT) was 0.93 per 1000 person‐years (95% CI: 0.85–1.02), and that for pulmonary embolism (PE) was 0.50 per 1000 person‐years (95% CI: 0.44–0.56). The incidence rates increased exponentially with age, and were slightly higher in women than in men. The 30‐day case‐fatality rate was higher in patients with PE than in those with DVT [9.7% vs. 4.6%, risk ratio 2.1 (95% CI: 1.2–3.7)]; it was also higher in patients with cancer than in patients without cancer [19.1% vs. 3.6%, risk ratio 3.8 (95% CI 1.6–9.2)]. The risk of dying was highest in the first months subsequent to the VT, after which it gradually approached the mortality rate in the general population. Conclusions: This study provides estimates of incidence and mortality of a first VT event in the general population. 相似文献
70.
对QT离散度实质的探讨 总被引:2,自引:0,他引:2
为探讨QT离散度(QTd)的真实意义,观察139例急性心肌梗死(AMI,AMI组)及109例正常人(对照组)的最长QT间期(QTmax)、校正QTmax(QTcmax)及QTd的变化。结果:①AMI组的QTmax、QTcmax和QTd均显著高于对照组(分别为422.60±30.51msvs382.46±23.40ms、460.21±28.96msvs388.51±20.15ms、59.80±28.40msvs39.43±12.21ms,P均<0.001)。②AMI组中发生严重室性心律失常(VA)患者(114例)的QTmax、QTcmax、QTd与无VA的患者(25例)相比,均有显著差异(分别为448.58±33.40msvs416.10±35.30ms、481.43±35.17msvs439.60±27.10ms、66.90±20.72msvs48.32±23.61ms,P均<0.001)。认为AMI时QTd系T向量环在不同导联上的“投影”差异所引起的,其异常的本质是QT间期延长 相似文献