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71.
Triplication of chromosomal region 1p36.3 is a rare genomic rearrangement. In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome is associated with a distinct phenotype, characterized by global developmental delay, moderate intellectual disability, seizures, behavioral problems, and specific facial dysmorphic features, including ptosis, hypertelorism, and arched eyebrows. The de novo occurrence of these microtriplications demonstrates the reduced reproductive fitness associated with this genotype, in contrast to 1p36.3 duplications which are mostly inherited and can be associated with similar facial features but with a less severe developmental phenotype. The shared triplicated region encompasses four disease-related genes of which GABRD and SKI are most likely to contribute to the phenotype.  相似文献   
72.
73.
HYPOTHESIS: Perioperative administration of a supplemented enteral formula may reduce the rate of postoperative infections. DESIGN: Prospective, randomized, double-blind clinical trial. SETTING: Department of surgery at a university hospital. PATIENTS: Two hundred six patients with neoplasm of colorectum, stomach, or pancreas. INTERVENTION: Patients were randomized to drink 1 L/d of either a control enteral formula (n = 104) or the same formula enriched with arginine, RNA, and omega3 fatty acids (n = 102) for 7 consecutive days before surgery. The 2 diets were isoenergetic and isonitrogenous. Jejunal infusion with the same formulas was started 6 hours after operation and continued until postoperative day 7. MAIN OUTCOME MEASURES: Rate of postoperative infectious complications and length of hospital stay. RESULTS: Both groups were comparable for age, sex, weight loss, Karnofsky scale score, nutritional status, hemoglobin level, duration of surgery, blood loss, and rate of homologous transfusion. Intent-to-treat analysis showed a 14% (14/102) infectious complication rate in the supplemented group vs 30% (31/104) in the control group (P = .009). In the eligible population, the postoperative infection rate was 11% (9/85) in the supplemented group vs. 24% (21/86) in the control group (P = .02). The mean +/- SD length of postoperative stay was 11.1+/-4.4 days in the supplemented group and 12.9+/-4.6 in the control group (P = .01). CONCLUSION: Perioperative administration of a supplemented enteral formula significantly reduced postoperative infections and length of stay in patients undergoing surgery for cancer.  相似文献   
74.
The shoulder joint constitutes a sophisticated compromise between stability and movement: trauma such as dislocation and the surgery that follows to restore anatomical integrity, may cause a change in this balance, resulting in myofascial retraction, neuromotorial inhibition, and a deviation in motorial programming with the appearance of compensation. It is the purpose of this study to report the results obtained with a specific rehabilitation program in 18 patients submitted to Neer capsuloplasty to treat anterior shoulder instability. An objective and subjective study with pre-established stages, and a 12-month follow-up was done, to evaluate the results obtained based on the Rowe scale.  相似文献   
75.
Free fatty acids impair hepatic insulin extraction in vivo   总被引:11,自引:0,他引:11  
Hyperinsulinemia is a common finding in obesity and results from insulin hypersecretion and impaired hepatic insulin extraction. In vitro studies have shown that free fatty acids (FFAs), which are often elevated in obesity, can impair insulin binding and degradation in isolated rat hepatocytes. To investigate whether FFAs impair hepatic insulin extraction (E(H)) in vivo, either saline (SAL) or 10% Intralipid (0.03 ml x kg(-1) x min(-1)) plus heparin (0.44 U x kg(-1) x min(-1)) (IH) was infused into normal dogs to elevate FFA levels. Insulin was infused intraportally at 18 pmol x kg(-1) x min(-1) for 150 min (period A, high insulin dose), and then at 2.4 pmol x kg(-1) x min(-1) for another 150 min (period B, low insulin dose). After the low portal insulin dose, additional insulin was infused peripherally at 8.4 pmol x kg(-1) x min(-1) for 120 min (period C) to assess the clearance of insulin from the peripheral plasma. In 16 paired experiments, FFA levels were 1,085 +/- 167, 1,491 +/- 240, 1,159 +/- 221 micromol/l (IH) and 221 +/- 44, 329 +/- 72, 176 +/- 44 micromol/l (SAL) in periods A, B, and C, respectively. Peripheral insulin levels were greater with IH (P < 0.001) than with SAL in all periods (1,620 +/- 114, 126 +/- 12, 1,050 +/- 72 pmol/l for IH vs. 1,344 +/- 168, 96 +/- 4.2, 882 +/- 60 pmol/l for SAL). Glucose clearance was impaired by IH in all periods (P < 0.05), whereas glucose production was slightly increased by IH during period B. Peripheral insulin clearance (Cl) and E(H) were calculated from the insulin infusion rate and insulin concentration data in each period by taking into account the nonlinearity of insulin kinetics. Cl was lower (P < 0.01) with IH (9.6 +/- 0.6, 12.0 +/- 0.9, 10.2 +/- 0.6 ml x kg(-1) x min(-1)) than with SAL (11.2 +/- 1, 13.6 +/- 0.7, 11.9 +/- 0.9 ml x kg(-1) x min(-1)) in periods A, B, and C. E(H) was also lower (P < 0.05) with IH (25 +/- 4, 40 +/- 5, 32 +/- 5%) than with SAL (30 +/- 2.8, 47 +/- 3, 38 +/- 3%). We conclude that FFAs can impair hepatic insulin extraction in vivo at high and low insulin levels, an effect that may contribute to the peripheral hyperinsulinemia of obesity.  相似文献   
76.
In female patient, aged 41, 3 years ago appeared skin changes of urticarial type, and occasional pain in the joints of shoulders and hands, followed by complete weakness and exhaustion, as well as the occurrence of face and eyelid edema. Laboratory findings confirmed the presence of hypocomplentemia with proteinuria, microhematuria and cylindruria. Histopathologic (HP) finding of skin biopsy was leukocytoclastic vasculitis, and HP finding of the kidneys was mesangioproliferative glomerulonephritis. The regression of skin changes was observed during hospitalization after Dapsone was administered. The therapy started with corticosteroids (Prednisone 40 mg/day with weekly dose from 5 mg to 30 mg). In spite of the therapy, hypocomplementemia and proteinuria up to 335 mg/24 h have maintained for a year in the later controls in an outpatient department. The patient is without discomfort, and renal function is stable.  相似文献   
77.

Purpose

We reexamined the relationship between preoperative serum prostate specific antigen (PSA) and prostate cancer volume in 290 patients who underwent radical prostatectomy.

Materials and Methods

Serum samples from 290 consecutive patients were remeasured with the automated monoclonal-monoclonal Tosoh AIA-600 assay. These values were correlated with individual cancer volume by measuring Pearson correlation coefficients (r).

Results

Cancer was noted in the transition zone in 31 patients and in the peripheral zone in 259. Of the peripheral zone cancers 133 (51.4 percent) were organ confined and 126 (48.6 percent) were nonorgan confined, including 12 (9.5 percent) with histologically confirmed lymph node metastasis (stage D1). The 259 peripheral zone cancers had a correlation coefficient with PSA (r = 0.499, p less than 0.0001). After distributing the 259 cases into cancer volume groups we found a large overlap in mean preoperative serum PSA, including 65 with 50 percent or greater Gleason grade 4 or 5 disease (r = 0.508). The correlation coefficients of cancer volume with PSA in 133 organ confined cancers, 114 nonorgan confined cancers without lymph node metastases and 12 nonorgan confined cancers with positive lymph nodes were 0.382, 0.438 and 0.363, respectively. The 31 transition zone cancers showed a correlation coefficient with PSA (r = 0.81). After excluding 2 cases with extreme PSA and cancer volume the correlation coefficient decreased (r = 0.077).

Conclusions

Even when remeasured with an automated monoclonal-monoclonal assay serum PSA alone is unable to predict preoperatively cancer volume or distinguish between organ and nonorgan confined cancer in peripheral and transition zone tumors of the prostate.  相似文献   
78.
Magnetic fields (MF) can influence biological systems in a wide range of animal species and humans. We report here on the influence of static MF, locally applied to the brain area, on immune system performances in the rat. In the first series of experiments two AKMA micromagnets (M) with the influx density of 600 Gauss were bilaterally implanted (with "N" polarity facing the cranial bones) and fixed to the skull posterior to the fronto-parietal suture (parietal brain exposure). Rats implanted with iron beads (I) and sham-operated (SO) rats served as controls. Animals were exposed to MF or I during different periods of time before and after immunization with several soluble or cellular antigens. We report here on the in vivo immunoregulating effects of centrally applied MF on plaque-forming cell (PFC) response, local hypersensitivity skin reactions and experimental allergic encephalomyelitis. The selective influence of MF applied to different brain regions on PFC response was evaluated, as well. For this purpose, two M were bilaterally implanted in the area of (a) frontal, (b) parietal and (c) occipital brain regions. Rats were under the influence of MF for 20 days before and 4 days after immunization with sheep red blood cells. Groups of nonimmunized rats were exposed for 14, 24 and 34 days to parietally implanted M or I, and the number of peripheral blood CD4+ and CD8+ cells determined by mouse anti-rat W3/25 and MRC OX 8 monoclonal antibodies. The results show an overall in vivo immunopotentiation of humoral and cell-mediated immune responses in rats exposed to MF. Furthermore, these immunomodulating effects of centrally applied MF depend on at least two basic parameters, time of exposure and brain region exposed. The highest immune performance was obtained after exposure of the occipital brain region for a total period of 24 days. The results provide further evidence of the complex interrelationship between the environment, the central nervous system and the immune system.  相似文献   
79.
Lymphoproliferative disorder (LPD) is described in only a few children receiving chemotherapy for cancer. In all of them, an association between LPD and EBV (Epstein‐Barr Virus) was found. We report on a patient who developed LPD not associated with EBV while receiving chemotherapy for relapsed acute lymphoblastic leukemia (ALL). Despite discontinuation of chemotherapy, administration of intravenous immunoglobulins and surgery the patient died. Growing experience with this disorder may allow better treatment options in the future and will show whether LPD not associated with EBV requires different therapeutic strategies. Med Pediatr Oncol 2003;40:13–17, © 2003 Wiley‐Liss, Inc.  相似文献   
80.
PURPOSE: To investigate the safety and tolerability and to explore the pharmacokinetic and pharmacodynamic profile of the humanized antiepidermal growth factor receptor monoclonal antibody EMD72000 in patients with solid tumors that express epidermal growth factor receptor (EGFR). PATIENTS AND METHODS: This was a phase I dose-escalation trial of EMD72000 in patients with advanced, EGFR-positive, solid malignancies that were not amenable to any established chemotherapy or radiotherapy treatment. EMD72000 was administered weekly without routine premedication until disease progression or unacceptable toxicity. RESULTS: Twenty-two patients were treated with EMD72000 at five different dose levels (400 to 2,000 mg/wk). National Cancer Institute common toxicity criteria grade 3 headache and fever occurring after the first infusion were dose limiting at 2,000 mg/wk; thus, the maximum-tolerated dose was 1,600 mg/wk. No other severe side effects, especially no allergic reactions or diarrhea, were observed. Acneiform skin reaction was the most common toxicity, but it was mild, with grade 1 in 11 patients (50%) and grade 2 in three patients (14%). Pharmacokinetic analyses demonstrated a predictable pharmacokinetic profile for EMD72000. Pharmacodynamic studies on serial skin biopsies revealed that EMD72000 effectively abrogated EGFR-mediated cell signaling (eg, reduced phosphorylation of EGFR and mitogen-activated protein kinase), with no alteration in total EGFR protein. Objective responses (23%; 95% CI, 8% to 45%) and disease stabilization (27%; 95% CI, 11% to 50%) were achieved at all dose levels, and responding patients received treatment for up to 18 months without cumulative toxicity. CONCLUSION: Treatment with EMD72000 was well tolerated and showed evidence of activity in heavily pretreated patients with EGFR-expressing tumors. EMD72000 at the investigated doses significantly inhibited downstream EGFR-dependent processes.  相似文献   
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