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101.
102.
A K Percy 《Journal of child neurology》1999,14(4):256-262
The past 3 decades have witnessed impressive progress in our understanding of inherited neurometabolic diseases, promoted by the rapid development and application of molecular genetic strategies. Such progress has required the juxtaposition of clinical evaluations and basic science techniques. The central role of careful and complete assessment of affected children cannot be overemphasized and in no way has been diminished by technologic advances. Indeed, enhanced clinical and laboratory evaluations have led to important conceptual advances. Molecular genetics has elucidated those disorders with known metabolic defects through functional cloning and explained the variability of disease expression based on specific mutational events. Alternatively, positional cloning has identified molecular defects for those disorders with clear phenotypic patterns, but lacking a defined metabolic abnormality. Regarding heterogeneous expression, disorders with clearly different phenotypes can arise from different mutations within the same gene. The multiple variants of beta-hexosaminidase deficiency (Tay-Sachs disease) are, arguably, the best examples. Conversely, disorders with similar phenotypes are explainable by quite different mutational events. In addition, the identification of specific diseases exhibiting both biochemical abnormalities and disturbed organogenesis has blurred conventional dogma regarding separation of genetic disorders into strict metabolic and structural categories. Disorders of peroxisomal function and the neuronal ceroid lipofuscinoses are prototypes for the points noted above and raise important issues regarding our approaches to children with these disorders. These issues include a high index of suspicion for an inherited neurometabolic disease and an open mind to possible interrelations with other known and seemingly dissimilar conditions. 相似文献
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105.
Epidural haematoma after removal of an epidural catheter in a patient receiving high-dose enoxaparin 总被引:1,自引:0,他引:1
A patient developed an epidural haematoma 6 days after removal of an
epidural catheter resulting in paraplegia and death. Insertion and removal
of the epidural catheter during anticoagulation with prophylactic
unfractionated heparin and subsequent administration of high-dose
enoxaparin (Clexane), which commenced 3 days after catheter removal, were
implicated.
相似文献
106.
M. Yaqoob A.W. Patrick P. McClelland A. Stevenson H. Mason D.F. Percy M.C. White G.M. Bell 《Diabetic medicine》1994,11(8):789-793
Exposure to hydrocarbons has been implicated in the pathogenesis of glomerulonephritis but its role in the development of diabetic nephropathy remains unknown. Three groups of patients with Type 1 diabetes of over 10 years duration were studied. Group 1 comprised 45 patients (23 F) with no diabetic nephropathy (urinary albumin excretion (AER) –30 mg 24 h?1), group 2 comprised 37 patients (17 F) with incipient diabetic nephropathy (AER between 30–300 mg 24 h?1), and group 3 comprised 31 patients (15 F) with overt diabetic nephropathy (AER >300 mg 24 h?1). The groups were comparable for age, sex, duration of diabetes, recent glycaemic control, social class, and residential area. Patients were assessed blindly by a validated questionnaire and interview for hydrocarbon exposure, consumption of tobacco, analgesic agents, and alcohol. Exposure scores to hydrocarbons derived from the questionnaire were significantly higher in patients with incipient and overt diabetic nephropathy with smoking adjusted odds ratios of 3.6 and 5.2, respectively. The consumption of alcohol, analgesic agents, tobacco, and smoking habits were similar in the three groups. In conclusion, hydrocarbon exposure may be a key environmental factor in the development of diabetic nephropathy in patients with Type 1 diabetes. 相似文献
107.
Martha M Murray Kurt P Spindler Clint Devin Brian S Snyder John Muller Masaya Takahashi Percy Ballard Lillian B Nanney David Zurakowski 《Journal of orthopaedic research》2006,24(4):820-830
The anterior cruciate ligament (ACL) of the knee fails to heal after primary repair. Here we hypothesize that a beneficial biologic repair response can be induced by placing a collagen-platelet rich plasma (collagen-PRP) material into a central ACL defect. A collagen-PRP scaffold was used to treat a central ACL defect in vivo. In the first experiment, the histologic response in treated and untreated defects was evaluated at 3 (n = 5) and 6 weeks (n = 5). In the second experiment, biomechanical testing of the treated ligaments (n = 8) was performed at 6 weeks and compared with the results of biomechanical testing of untreated defects at the same time-point (n = 6). The percentage filling of the defects in the treated ACLs was significantly higher at both the 3- and 6-week time-points when compared with the untreated contralateral control defects (50 +/- 21% vs. 2 +/- 2% at 3 weeks, and 43 +/- 11% vs. 23 +/- 11 at 6 weeks; all values mean +/- SEM. Biomechanically, the treated ACL defects had a 40% increase in strength at 6 weeks, which was significantly higher than the 14% increase in strength previously reported for untreated defects (p < 0.02). Placement of a collagen-PRP bridging scaffold in a central ACL defect can stimulate healing of the ACL histologically and biomechanically. 相似文献
108.
Seizures in children are not uncommon, and more than half of these seizures have no known cause. This discussion and review of seizures covers three types of presentations: the child who presents following an initial seizure; the child who presents with serial seizures or continuous seizures (status epilepticus); and the child who presents following a febrile seizure. The nurse practitioner can play a critical role in the assessment and management of children presenting with each of these three types of seizures. A review of drug management of childhood seizures and a comprehensive review of the critical areas to cover in counseling the child, family and community are included. 相似文献
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110.
McCluskey S Baker D Percy D Lewis P Middleton E 《Journal of public health (Oxford, England)》2007,29(4):379-387
BACKGROUND: This study was carried out in order to examine changes in cardiovascular risk associated with a population-based screening programme. METHOD: Cardiovascular disease (CVD) risk factor data from a representative sample of residents aged between 45 and 55 years who attended screening a total of three times over a 10-year period were chosen for analysis (n=4113). Cohorts were defined as either 'high risk' or 'normal risk' at baseline for risk factors including blood pressure, body mass index (BMI), cholesterol, smoking and alcohol intake. Mean changes were observed for both groups over three screening episodes, and results were stratified by gender. RESULTS: For the high-risk cohorts (after controlling for age and regression to the mean effects), there were significant decreases in all risk factors, except BMI. Conversely, the observed changes in the normal risk cohorts indicated significant increases in risk factors over the 10-year period. After adjusting for age, the pattern in the normal risk cohorts fluctuated and there were some decreases in risk, but they were not as large as the decreases in risk for the high-risk cohorts. CONCLUSIONS: Population screening for CVD is an effective strategy for identifying and reducing risk in high-risk individuals. These results have significant implications for the role of screening in preventing and controlling cardiovascular disease. 相似文献