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991.
Schrier SA Bodurtha JN Burton B Chudley AE Chiong MA D'avanzo MG Lynch SA Musio A Nyazov DM Sanchez-Lara PA Shalev SA Deardorff MA 《American journal of medical genetics. Part A》2012,(8):1865-1876
Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the "classic" coarse facial features previously described; another displays "variant" facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis. 相似文献
992.
Propionic acidemia (PA) is a rare organic acidemia that is due to deficiency in the enzyme propionyl-coA carboxylase. Complications are currently described mostly in the form of case reports. We sampled a population of affected individuals in order to estimate the frequency of complications amongst the sample. The study is a cross-sectional retrospective review with a survey instrument and recruitment through the Propionic Acidemia Foundation. Responses for 58 individuals were tabulated for each question as how frequently the complication was reported among responders. Commonly reported findings included seizures, arrhythmia, leucopenia, and anemia. Developmental and cognitive disabilities were reported in the majority of individuals. Heart failure or cardiomyopathy was reported in over half of deceased individuals at time of death. Pancreatitis was reported in a minority of the sample, yet more than half of these reported a recurrence. These results update and extend our current knowledge of recognized complications among individuals with PA. The results also provide new information regarding developmental outcomes and previously unreported morbidity from cardiac and gastrointestinal complications. Longitudinal studies exploring associated biochemical and clinical parameters are necessary to further our understanding of the pathophysiology of PA and its complications. 相似文献
993.
A case of vertebral osteomyelitis involving misidentification of Candida parapsilosis as C famata by the VITEK 2 compact is described. Species-specific primers were used in the polymerase chain reaction to correctly identify the clinical isolate. When uncommon species of Candida are reported using automated systems, heightened clinical suspicion is warranted. 相似文献
994.
Gene transfer to the central nervous system provides powerful methodology for the study of gene function and gene–environment interactions in vivo, in addition to a vehicle for the delivery of therapeutic transgenes for gene therapy. The aim of the present study was to determine patterns of tropism exhibited by pseudotyped lentiviral vectors in the rat substantia nigra, in order to evaluate their utility for gene transfer in experimental models of Parkinson's disease. Isogenic lentiviral vector particles encoding a GFP reporter were pseudotyped with envelope glycoproteins derived from vesicular stomatitis virus (VSV), Mokola virus (MV), lymphocytic choriomeningitis virus (LCMV), or Moloney murine leukemia virus (MuLV). Adult male Lewis rats received unilateral stereotactic infusions of vector into the substantia nigra; three weeks later, patterns of viral transduction were determined by immunohistological detection of GFP. Different pseudotypes gave rise to transgene expression in restricted and distinct cellular populations. VSV and MV pseudotypes transduced midbrain neurons, including a subset of nigral dopaminergic neurons. In contrast, LCMV- and MuLV-pseudotyped lentivirus produced transgene expression exclusively in astrocytes; the restricted transduction of astroglial cells was not explained by the cellular distribution of receptors previously shown to mediate entry of LCMV or MuLV. These data suggest that pseudotyped lentiviral vectors will be useful for experimental gene transfer to the rat substantia nigra. In particular, the availability of neuronal and astrocytic-targeting vectors will allow dissociation of cell autonomous and cell non-autonomous functions of key gene products in vivo. 相似文献
995.
996.
Burton PR Yap K Brown WA Laurie C O'Donnell M Hebbard G Kalff V O'Brien PE 《Obesity surgery》2011,21(2):217-223
Background
Laparoscopic adjustable gastric banding (LAGB) induces and sustains weight loss, likely by activating the peripheral satiety mechanism. Recent data suggests that food is not retained above the optimally adjusted LAGB, suggesting that an alternate mechanism is inducing satiety. How transit and gastric emptying change following LAGB and correlate with satiety and weight loss have not been adequately defined. 相似文献997.
Habel N Müller JG Znojkiewicz P Thompson N Calame J Calame S Noori A Gallo A Lustgarten DL Sobel BE Spector PS 《Pacing and clinical electrophysiology : PACE》2011,34(11):1460-1467
Background: Ablation of atrial autonomic inputs exerts antifibrillatory effects. However, because ablation destroys both myocardium and nerve cells, the effect of autonomic withdrawal alone remains unclear. We therefore examined the effects of pharmacologic autonomic blockade (PAB) on frequency and fractionation in patients with atrial fibrillation (AF). Methods: Esmolol and atropine were administered and electrograms were recorded simultaneously from both atria and the coronary sinus. In 17 patients, AF was recorded for 5 minutes and dominant frequency (DF) and continuous activity (CA) were compared before and during PAB. Results: Examination of the pooled data (537 sites, 17 patients) revealed a statistically significant decrease in mean DF (5.61–5.43Hz, P < 0.001) during PAB. Site‐by‐site analysis showed that 67% of sites slowed (0.45 ± 0.59 Hz), whereas 32% accelerated (0.49 ± 0.59Hz). Fractionation was reduced: median CA decreased from 31% to 26% (P < 0.001). In patient‐by‐patient analysis, mean DF/median CA decreased in 13 of 17 patients and increased in four. The spatial heterogeneity of DF decreased in nine of 17 patients (spatial coefficient of variation of DF at “nondriver sites” decreased by a mean of 2%). Conclusion: PAB decreases DF and CA in the majority of sites. Given the complexity of interactions between atrial cells during AF, the effects of PAB on DF and fractionation are more heterogeneous than the effects of PAB on isolated cells. (PACE 2011; 34:1460–1467) 相似文献
998.
John Antoniou Stephane G. Bergeron Burton Ma Raja Chakravertty John Rudan 《The Journal of arthroplasty》2011,26(3):458-466
Surface arthroplasty simulations were generated using 3-dimensional computed tomographic scans from 61 consecutive patients presenting with idiopathic osteoarthritis to evaluate the change in femoral component positioning that would allow optimal alignment when resurfacing a cam-type deformity. Anatomical parameters were measured to quantify the influence of the deformity on the insertion technique of the femoral implant. A modified femoral head ratio was initially calculated from plain radiographs to define the severity of cam deformity in these patients. A severe deformity required more superior translation of the entry point and greater reaming depth to allow safe insertion with optimal implant alignment. This could be achieved while preserving the leg length, minimizing the component size, and maximizing the amount of host bone contact, although the horizontal femoral offset was reduced. These findings suggest that the femoral component can be safely inserted by modifying the surgical technique despite progressive deformity of the femoral head. 相似文献
999.
1000.
Patients with the metabolic syndrome are insulin resistant and manifest a cluster of risk factors for cardiovascular disease.
Impaired fibrinolysis and increased concentrations in blood of plasminogen activator inhibitor-1 (PAI-1) are related to insulin
resistance and abdominal obesity and may contribute to the increased risk for cardiovascular disease in this group. Weight
loss, metformin, and thiazolidinediones ameliorate insulin resistance and decrease concentrations of PAI-1. Thus, they may
lower risk in patients with the metabolic syndrome. 相似文献