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991.
992.
13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp–109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. Conclusions: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.  相似文献   
993.
Summary

Alteration of the metabolism of Drosophila oocytes greatly affects the induction of structural changes by x-rays. Females 2–3 days of age contain oocytes whose chromosomes restitute and rearrange rapidly, whereas no evidence for restitution within the intervals studied was found in samples of oocytes from females 8–9 days old at the time of irradiation. The effect of nitrogen as a post- or inter-treatment showed, however, that for both young and old oocytes there was more restitution in air than in nitrogen. Both young and old oocytes show reduced rearrangement frequencies when irradiations were performed in nitrogen, and increased rearrangement frequencies when a fractionated irradiation was performed with the flies maintained in a nitrogen environment between irradiations. These different effects of anoxia are discussed.  相似文献   
994.
Journal of Neurology - Evidence of endovascular treatment (EVT) for acute large vessel occlusion (LVO) ischemic stroke in patients harboring substantial prestroke disability is lacking due to their...  相似文献   
995.
Aim: We sought to investigate the safety and efficacy of Cardio‐O‐Fix septal occluder (CSO) in percutaneous closure of atrial septal defects (ASD) as compared to the Amplatzer septal occluder (ASO). Methods: A consecutive of 351 patients received transcatheter ASD closure with CSO or ASO from July 2004 to October 2010 were studied. The ASDs were divided into simple‐ (isolated defects <26 mm) or complex‐types (isolated defect ≥26 mm, double or multifenestrated defects). The procedures were guided by fluoroscopy and transthoracic or transesophageal echocardiography. Clinical and echocardiographic follow‐ups were arranged before discharge, at 1 month and then every 6‐month after implantation. Results: During the study period, 185 (125 males, aged 18.5 ± 15.6 years) and 166 (103 males, aged 21.0 ± 15.7 years) patients attempted CSO and ASO implants, respectively. The CSO group had similar ASD and device sizes, prevalence of complex lesions (17 vs. 16%, P = 0.796), procedural times and success rates (97% vs. 96%, P = 0.635) as compared to the ASO group. Acute residual shunts were less prevalent in CSO than ASO group and most shunts closed spontaneously at 6‐month follow‐ups. The average equipment cost per patient was lower in CSO group (US$ 4,100 vs. US$ 5,900, P < 0.001). The prevalence of device embolization and atrial arrhythmia (all <2%) were similar in both patient groups. Conclusion: Transcatheter ASD occlusion with CSO is safe and effective and it appeared to be an attractive alternative to ASO in closing simple‐type ASD because of its relatively low cost. © 2013 Wiley Periodicals, Inc.  相似文献   
996.
Abstract: Compomers have continually gained in importance since their introduction in 1993, especially because of their ease of handling. The main indications are cervical lesions, Class III restorations, and restorations in the primary dentition. To extend the indications of compomers to esthetic Class I and II restorations in the permanent dentition, improvements in wear resistance and bond strength need to be accomplished. Studies have shown an improved bond strength and less marginal gap formation between compomers and enamel and dentin with acid etching of the tooth before application of conventional mild self-etching adhesives. Newly formulated, improved self-etching adhesives with a higher demineralization potential recently have been developed. The objective of this case presentation is to demonstrate step-by-step the clinical procedure for the application of a newly developed self-etching adhesive with high demineralization potential in combination with a compomer material in occlusal cavities.  相似文献   
997.
Nephrin localizes to the slit pore of the glomerular epithelial cell.   总被引:41,自引:0,他引:41  
BACKGROUND: Recognition that mutation of the protein nephrin, encoded by the NPHS1 gene, singly results in the cellular alterations that result in foot process effacement, and nephrotic range proteinuria emphasizes the pivotal role that this protein plays in regulating glomerular filter integrity. This article reports the development of reagents necessary to study the biology of nephrin in mouse, and describes the initial characterization of the nephrin protein. METHODS: A cDNA including the full-length mouse nephrin open reading frame was cloned and sequenced. Immuno-affinity purified polyclonal antiserum directed against the cytoplasmic domain of mouse nephrin was developed. RESULTS: Nephrin identified in mouse glomerular extract was found to be a glycoprotein with an apparent molecular mass of 185 kDa. As detected by indirect immunofluorescence microscopy and immunogold electron microscopy, nephrin was located only in visceral glomerular epithelial cells, where it was targeted to intercellular junctions of mature podocyte foot processes. In developing glomeruli of newborn mouse, antinephrin immunolocalized to the earliest slit pore regions between differentiating podocytes, sites where slit diaphragms first become visible. CONCLUSION: As a putative cell adhesion molecule of the immunoglobulin superfamily, nephrin likely participates in cell-cell interactions between podocyte foot processes and may represent a component of the slit diaphragm.  相似文献   
998.
PURPOSE: To test the efficacy of a combination of selective pre- and post-surgical local anesthetic infiltrations of the knee, compared with standard intra-articular injection at the end of surgery alone, to reduce postoperative opioid requirements following arthroscopic cruciate ligament reconstruction (ACLR). METHODS: In a double-blind, randomized, controlled trial, we studied 23 patients (ASA I or II) scheduled for elective ACLR under general anesthesia. The treatment group (n = 12) received infiltrations with bupivacaine 0.25% with epinephrine 1:200,000 presurgically (10 ml into the portals, 10 ml at the medial tibial incision site, 10 ml at the lateral femoral incision site, and 10 ml intra-articularly) and postsurgically (5 ml at the medial tibial incision and 10 ml at the lateral femoral incision). The control group (n = 11) received infiltrations with saline 0.9% in the same manner. All patients received a standard intra-articular local anesthetic instillation of the knee (25 ml of bupivacaine 0.25% with epinephrine 1:200,000) at the completion of surgery. RESULTS: Postoperative opioid requirements were lower in the treatment group (5.8 +/- 2.9 mg morphine equivalent) than in the control group ( 13.7 +/- 5.8 mg; P = 0.008). Treatment patients were ready for discharge approximately 30 min earlier than control patients (P = 0.046). There were no adverse events in the treatment group. In the control group, 2/11 patients vomited and a third experienced transient postoperative diaphoresis, dizziness and pallor. CONCLUSION: We conclude that a combination of selective pre- and post-surgical wound infiltration with bupivacaine 0.25% provides superior analgesia compared with a standard post-surgical intra-articular injection alone.  相似文献   
999.
Fitzgerald, Dr R. (2000). Clinical Radiology55, 983.  相似文献   
1000.
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