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91.
Background Escobar syndrome or multiple pterygium syndrome is characterized by a web across every flexion crease in the extremities, most notably the popliteal space. In addition, this syndrome is associated with two other structural anomalies: a vertical talus and congenital lordoscoliosis. We present a case report of a patient with Escobar syndrome who was initially managed conservatively and subsequently had severe and debilitating progression and respiratory decompensation ultimately requiring surgical intervention.Study Design Case report.Methods After preoperative evaluation by a pediatrician, pulmonologist, and otolaryngologist, the patient underwent one-stage anterior and posterior spinal fusion with instrumentation as well as multiple osteotomies, rib resections, and vertebrectomies.Results The patient’s postoperative course was complicated by wound necrosis requiring irrigation and debridement, a urinary tract infection, and a tracheostomy for persistent atelectasis. The patient eventually recovered from all complications. There were never any focal neurologic deficits. The patient had a 3-year follow-up with radiographically confirmed maintenance of correction. Fusion was obtained in the anterior and posterior segments. Clinically, the patient is able to stand upright, can participate in functional activities, and has not required any pain medication. The patient’s functional vital capacity improved from 23% predicted preoperatively to 60% predicted postoperatively.Conclusions Patients with severe spinal deformity secondary to Escobar syndrome can be successfully treated surgically. We propose early surgical intervention in this group to prevent curve progression, restrictive lung disease, and the need for complex salvage procedures. 相似文献
92.
Watts LM Manchem VP Leedom TA Rivard AL McKay RA Bao D Neroladakis T Monia BP Bodenmiller DM Cao JX Zhang HY Cox AL Jacobs SJ Michael MD Sloop KW Bhanot S 《Diabetes》2005,54(6):1846-1853
Glucocorticoids (GCs) increase hepatic gluconeogenesis and play an important role in the regulation of hepatic glucose output. Whereas systemic GC inhibition can alleviate hyperglycemia in rodents and humans, it results in adrenal insufficiency and stimulation of the hypothalamic-pituitary-adrenal axis. In the present study, we used optimized antisense oligonucleotides (ASOs) to cause selective reduction of the glucocorticoid receptor (GCCR) in liver and white adipose tissue (WAT) and evaluated the resultant changes in glucose and lipid metabolism in several rodent models of diabetes. Treatment of ob/ob mice with GCCR ASOs for 4 weeks resulted in approximately 75 and approximately 40% reduction in GCCR mRNA expression in liver and WAT, respectively. This was accompanied by approximately 65% decrease in fed and approximately 30% decrease in fasted glucose levels, a 60% decrease in plasma insulin concentration, and approximately 20 and 35% decrease in plasma resistin and tumor necrosis factor-alpha levels, respectively. Furthermore, GCCR ASO reduced hepatic glucose production and inhibited hepatic gluconeogenesis in liver slices from basal and dexamethasone-treated animals. In db/db mice, a similar reduction in GCCR expression caused approximately 40% decrease in fed and fasted glucose levels and approximately 50% reduction in plasma triglycerides. In ZDF and high-fat diet-fed streptozotocin-treated (HFD-STZ) rats, GCCR ASO treatment caused approximately 60% reduction in GCCR expression in the liver and WAT, which was accompanied by a 40-70% decrease in fasted glucose levels and a robust reduction in plasma triglyceride, cholesterol, and free fatty acids. No change in circulating corticosterone levels was seen in any model after GCCR ASO treatment. To further demonstrate that GCCR ASO does not cause systemic GC antagonism, normal Sprague-Dawley rats were challenged with dexamethasone after treating with GCCR ASO. Dexamethasone increased the expression of GC-responsive genes such as PEPCK in the liver and decreased circulating lymphocytes. GCCR ASO treatment completely inhibited the increase in dexamethasone-induced PEPCK expression in the liver without causing any change in the dexamethasone-induced lymphopenia. These studies demonstrate that tissue-selective GCCR antagonism with ASOs may be a viable therapeutic strategy for the treatment of the metabolic syndrome. 相似文献
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Chronic valproate administration produces hepatic dysfunction and may delay brain maturation in infant mice 总被引:6,自引:0,他引:6
J H Thurston R E Hauhart D W Schulz E F Naccarato W E Dodson J E Carroll 《Neurology》1981,31(9):1063-1069
Infant mice (2 to 4 days old) received valproate (100 or 200 mg per kilogram body weight) subcutaneously once daily for 5 days. Both dosages decreased plasma beta-hydroxybutyrate levels to about one-third of the control value, in the face of normal free fatty acid and glycerol levels. At 200 mg per kilogram of valproate, there were significant decreases in brain weight and brain K content. Both doses produced metabolite changes in brain compatible with a reduced metabolic flux through the glycolytic pathway and the citric acid cycle. Valproate reduced brain aspartate but did not increase brain GABA levels in infant mice. At 200 mg per kilogram of valproate, brain glutamate decreased and taurine levels increased. Two hundred milligrams per kilogram of valproate caused a profound reduction of liver glycogen stores. The apparent decrease in cerebral metabolic rate, reduced glutamate and aspartate, and increased levels of taurine in brain may relate to the anticonvulsant action of valproate. Together with the decreased brain weight and K content, the findings are also compatible with maturational delay. Decreased ketonemia and liver glycogen content may relate to the hepatic toxicity associated with valproate administration in infants and children. 相似文献
97.
Ronald F. Dodson Pedro Castillo-Mozun L. R. Hieger M. Glenn Williams 《Ultrastructural pathology》1981,2(4):365-372
A muscle biopsy that, by light microscopy, exhibited mild atrophy consistent with chronic denervating disease was submitted for ultrastructural analysis. Inorganic structures within the tissue were defined by energy dispersive analysis as aluminosilicates, magnesium silicates, and iron deposits. These structures were localized in the interstitial (intercollagenous) area and in high concentrations within degenerated muscle bundles. An alteration of the blood/muscle barrier has obviously occurred; however, the extent to which the end result commonly occurs in humans is unknown. Clarification of the question raised by this observation will have to be derived from animal studies, and clinicians must have an awareness of the need for electron microscopy/energy-dispersive x-ray analysis in muscle biopsies from patients with similar therapeutic backgrounds. 相似文献
98.
Loss of righting reflex (LRR) produced by various concentrations of the leucine-enkephalin analog BW831c (TYR.D-ALA.GLY.PHE.D-LEU.NHEt.HCI) was determined in amphibia at 1 atm and 120 atm of helium. EC50 for LRR was 22.1 +/- 1.6 microM and 44 +/- 6.9 microM, respectively. The octanol/water partition coefficient (P) was 26 +/- 3.6, suggesting that this peptide is sufficiently lipid soluble for a classic Meyer-Overton type of anesthetic action. The ratio (EC50 at 120 atm)/(EC50 at 1 atm) for the peptide (2.0 +/- 0.31) was essentially the same as that for the long-chain alcohol, octanol (1.8 +/- 0.08), and similar to those reported for phenobarbital and the gaseous anesthetics. Thus, peptide-induced LRR was reversible by pressure. Peptide-induced LRR also was completely reversible by naloxone, whereas octanol-induced LRR was unaffected by up to 100 microM naloxone. These findings are consistent with a dual mechanism of anesthetic action for this peptide: one, an opiate receptor-specific mechanism, reversible with the specific opiate antagonist, naloxone; the other, a nonspecific mechanism, related to lipid solubility and reversible with the application of the physical agent, pressure. 相似文献
99.
In a District General Hospital Diabetic Clinic 40.0% of a random sample of diabetics under the age of 65 years of age were hypertensive. Black patients (48.9%) had greater (p less than 0.05) prevalence of hypertension than Whites (37.5%) and Asians (35.4%). Hypertension was more prevalent in females (49.1%) than males (33.0%) (p less than 0.001) in each ethnic group except Asians, and patients not receiving insulin had greater prevalence (45.6%) than those on insulin (30.7%) (p less than 0.001), except black diabetics where the reverse was found. There was a positive relationship between age and systolic (p less than 0.00001) and diastolic blood pressure (p less than 0.00001) and a negative association between duration of diabetes and diastolic blood pressure (p less than 0.004) on multiple regression analysis but no relationship was noted between blood pressure and either weight or blood glucose. Forty-six percent of all hypertensives were receiving conventional anti-hypertensive drug therapy; 38.7% were normotensive with similar results in each ethnic group and between the sexes. Isolated systolic hypertension was the commonest form of hypertension (48.3%) with isolated diastolic hypertension (4.9%) the rarest. These findings were observed regardless of the ethnic group or gender. Although in the majority of cases hypertension was mild these data confirm the importance of routine blood pressure measurement in diabetic patients. 相似文献
100.
Budson AE Droller DB Dodson CS Schacter DL Rugg MD Holcomb PJ Daffner KR 《Journal of cognitive neuroscience》2005,17(8):1181-1193
Event-related potentials (ERPs) were used to investigate the neural processes underlying the distinctiveness heuristic-a response mode in which participants expect to remember vivid details of an experience and make recognition decisions based on this metacognitive expectation. One group of participants studied pictures and auditory words; another group studied visual and auditory words. Studied and novel items were presented at test as words only, with all novel items repeating after varying lags. ERP differences were seen between the word and picture groups for both studied and novel items. For the novel items, ERP differences were largest in frontal and central midline electrodes. In separate analyses, the picture group showed the greatest ERP differences between item types in a parietally based component from 550 to 1000 msec, whereas the word group showed the greatest differences in a frontally based component from 1000 to 2000 msec. The authors suggest that the distinctiveness heuristic is a retrieval orientation that facilitates reliance upon recollection to differentiate between item types. Although the picture group can use this heuristic and its retrieval orientation on the basis of recollection, the word group must engage additional postretrieval processes to distinguish between item types, reflecting the use of a different retrieval orientation. 相似文献