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991.
Sarcoglycanopathies (SGpathies) are highly frequent among severely affected limb-girdle muscular dystrophy patients. On the basis of the findings of 5 common mutations in the 4 sarcoglycan (SG) genes in the Brazilian population, we standardized a multiplex polymerase chain reaction-single-strand conformation polymorphism methodology for their concomitant analysis in DNA samples. The test was able to confirm the diagnosis in about 63% of new patients with a suspected SGpathy and was particularly important in patients in advanced stages of the disease, when obtaining a muscle biopsy for analysis may be very difficult. As common mutations have been described in several countries, this multiplex analysis could be useful for the diagnosis of SGpathies if established according to the most prevalent mutations in each population. Besides, even though the disorder studied is rare, the technique could be broadly applicable to other genes and disorders.  相似文献   
992.
Ammonium excretion into urine is a major process essential to the regulation of acid-base homeostasis. We have shown that Rh-type proteins, including renal RhCG, belong to the Mep/Amt family of ammonium transporters and promote bi-directional ammonium transport upon heterologous expression in yeast. To study the physiological role of RhCG and to test a potential function in ammonium excretion, we have generated mice bearing an invalidation of the corresponding gene.  相似文献   
993.
Background: Contraction of airway smooth muscle is regulated by receptor-coupled mechanisms that control the force developed for a given cytosolic calcium concentration (i.e., calcium sensitivity). Halothane antagonizes acetylcholine-induced increases in calcium sensitivity by inhibiting GTP-binding (G)-protein pathways. The authors tested the hypothesis that hexanol, like halothane, inhibits agonist-induced increases in calcium sensitivity in airway smooth muscle by inhibiting G-protein pathways.

Methods: Calcium sensitivity was assessed using [alpha]-toxin-permeabilized canine tracheal smooth muscle. In selected experiments, regulatory myosin light chain phosphorylation was also determined by Western blotting in the presence and absence of 10 mm hexanol and/or 100 [mu]m acetylcholine.

Results: Hexanol (10 mm) and halothane (0.76 mm) attenuated acetylcholine-induced calcium sensitization by decreasing regulatory myosin light chain phosphorylation during receptor stimulation. Hexanol also inhibited increases in calcium sensitivity due to direct stimulation of heterotrimeric G-proteins with tetrafluoroaluminate but not with 3 [mu]m GTP[gamma]S, consistent with prior results obtained with halothane. In contrast, in the absence of receptor stimulation, both compounds produced a small increase in calcium sensitivity by a G-protein-mediated increase in regulatory myosin light chain phosphorylation that was not affected by pertussis toxin treatment.  相似文献   

994.
Leg length inequality after total hip arthroplasty   总被引:5,自引:0,他引:5  
Leg length inequality (LLI) in 55 patients with cemented total hip arthroplasty (THA) was measured from weight-bearing anteroposterior (AP) hip radiographs. The mean radiologic LLI was 8.7 mm in unilateral and 11.6 mm in bilateral THA, differing significantly from the clinically measured values (2.8 mm and 4.2 mm, respectively). LLI as a cause of aseptic loosening and unexplained pain warrants investigation in THA patients.  相似文献   
995.
Prospective Study of 3 Metabolic Regimens in Pregnant Diabetics   总被引:1,自引:0,他引:1  
Three tight regimens to maintain blood sugar values of 5.6 SI (group A), 5.6-6.7 SI (group B), and 6.7-8.9 SI (group C), were studied in 60 pregnant diabetic patients. The perinatal salvage rate was 96.6%. Maternal hypoglycaemia occurred only in group A. The group C regimen produced more complications than occurred in the other 2 groups. Very tight control of blood sugar is not necessary for successful management of diabetes in pregnancy and blood sugar value between 5.6-6.7 SI offers the best outcome.  相似文献   
996.
The reaction of cerebral blood flow to acute changes in arterial carbon dioxide pressure (PaCO2) and mean arterial blood pressure was determined in 57 preterm infants supported by mechanical ventilation (mean gestational age 30.1 weeks) during the first 48 hours of life. All infants had normal brain sonograms at the time of the investigation. In each infant, global cerebral blood flow was determined by xenon-133 clearance two to five times within a few hours at different levels of PaCO2. Changes in PaCO2 followed adjustments of the ventilator settings. Arterial oxygen pressure was intended to be kept constant, and mean arterial blood pressure fluctuated spontaneously between measurements. The data were analyzed by stepwise multiple regression, with changes in global cerebral blood flow, PaCO2, mean arterial blood pressure, and postnatal age or intracranial hemorrhage used as variables. In infants with persistently normal brain sonograms, the global cerebral blood flow-carbon dioxide reactivity was markedly lower during the first day of life (mean 11.2% to 11.8%/kPa PaCO2) compared with the second day of life (mean 32.6/kPa PaCO2), and pressure-flow autoregulation was preserved. Similarly, global cerebral blood flow-carbon dioxide reactivity and pressure-flow autoregulation were present in infants in whom mild intracranial hemorrhage developed after the study. In contrast, global cerebral blood flow reactivity to changes in PaCO2 and mean arterial blood pressure was absent in infants in whom ultrasonographic signs of severe intracranial hemorrhage subsequently developed. These infants also had about 20% lower global cerebral blood flow before hemorrhage, in comparison with infants whose sonograms were normal, a finding that suggests functional disturbances of cerebral blood flow regulation. Several perinatal factors were tested, but only birth after abruptio placentae was related to subsequent periventricular hemorrhage (p = 0.037).  相似文献   
997.
Abnormal pressor responses are known to occur in the maternal circulation in pregnancy-induced hypertension (PIH), but little is know of the response of the foetal circulation. The responsiveness of umbilical arteries in PIH can be studied after delivery, and this is a useful model to explore the pathophysiological mechanisms involved. In the present experiments, the in vitro response of umbilical artery rings to bradykinin and 5-hydroxytryptamine (5-HT) was tested and ultrastructural changes investigated. Umbilical arteries from 48 cords were studied. Fifteen of the mothers had PIH, five had essential hypertension pre-dating the pregnancy and five had diabetes. Twenty-three women had pregnancies uncomplicated by hypertension or serious medical or obstetric problems and these served as controls. Umbilical arteries from the severe proteinuric PIH group were significantly more responsive to 5-HT as assessed by affinity constants (P less than 0.05). The responsiveness of arteries from all other groups did not differ from the normal cases. A probable mechanism for the findings is endothelial damage as a result of pre-eclamptic disease. This was substantiated by ultrastructural evidence.  相似文献   
998.
These studies were conducted to determine to what extent dietary fibers, or related compounds such as lactulose or amylomaize starch, alter the flux of blood urea to the cecum and cecal absorption of ammonia in the rat. Cecal weight and pH values were not different among rats fed diets containing 10% lactulose, pectin or guar gum, or 25% amylomaize starch. However, the cecal wall weight was markedly higher with lactulose feeding than with the other polysaccharides, whereas volatile fatty acid concentrations were lower with lactulose. The fiber diets depressed cecal ammonia, particularly in the case of the amylomaize starch diet, whereas the lactulose diet enhanced the concentration of ammonia. Owing to cecal enlargement and enhanced blood flow, the diets containing fermentable carbohydrates promoted a higher flux of urea to the cecum and also higher ammonia absorption in spite of low concentrations of ammonia in the cecum. Lactulose led to particularly high transfer of urea and absorption of ammonia. High blood urea in rats fed a 50% casein diet led to a very high flux of urea to the cecum and, hence, to high ammonia absorption. The presence of polysaccharides amplified the flux of urea and ammonia in the cecum. This study suggests that oligosaccharides such as lactulose, although very effective for the acidification of the contents of the large intestine, may enhance cecal ammonia and its absorption. Polysaccharides such as amylomaize starch might show greater efficiency for lowering ammonia concentrations in the large intestine.  相似文献   
999.
Filipin, a complex of polyene antibiotics, forms morphologically distinctive complexes with cholesterol in cell membranes under proper experimental conditions. When applied to non-activated, discoid platelets, filipin-induced lesions (FIL) occurred in rows at the platelet equator, suggesting a specialized membrane organization at the platelets' largest circumference. In some thrombin-activated platelets we observed surface membrane blebbing and release of lipid vesicles that predominantly originated from the plasma membrane proper, but some originated from (unidentified) platelet granules. FIL were initially present in high numbers over the entire bleb, they accumulated later at the neck of blebs, while the released vesicle was free of FIL. Absence of intramembrane protein particles (IMP) from the membranes of blebs and vesicles suggests that released vesicles are essentially without cholesterol and intrinsic membrane proteins and may consist predominantly of phospholipids. Membrane blebbing and vesicle release may represent unmasking and release of procoagulant platelet factor 3 activity.  相似文献   
1000.
A new beta-lactamase-stable oral cephem antibiotic, cefixime (CFIX), was evaluated for safety, efficacy and pharmacokinetics in children. CFIX was effective in 19 of 20 cases (95%) with bacterial infections. The drug was especially effective against the cases of pneumonia due to beta-lactamase-producing H. influenzae or B. catarrhalis. Pharmacokinetic parameters of CFIX (3 mg/kg) with premeal administration were as follows: Kel 0.328 +/- 0.066 hr-1, T 1/2 2.14 +/- 0.36 hrs, AUC 10.9 +/- 8.7 micrograms X hr/ml, and Vd/F 1.64 +/- 1.42 L/kg. In most of the cases tested, the urinary excretion rate in 12 hours was 5 to 17%. A dose of 3 mg/kg twice daily seems to be adequate for a regular treatment.  相似文献   
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