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81.
82.
We have identified and molecularly characterized a novel deletion in the beta-globin gene cluster that increases fetal hemoglobin (HbF) synthesis in a 24-year-old Laotian man who is heterozygous for this mutation. The patient is asymptomatic with a mild anemia, hypochromia, and microcytosis (Ht = 39%, MCH = 22.8 pg, MCV = 71 fl), normal levels of HbA2 (3.0%) and 11.5% HbF (G gamma A gamma ratio 60 to 40), with heterocellular distribution (52% F cells). Extensive restriction endonuclease mapping defined the 5' breakpoint within the IVS II of the delta-globin gene, between positions 775 to 781 very similar to the 5' breakpoint of the Sicilian delta beta-thalassemia. However, the 3' breakpoint was localized between two Pst I sites 4.7 kb 3' of the beta- globin gene, thus ending about 0.7 kb upstream from the 3' breakpoint of the Sicilian delta beta-thalassemia. This results in a 12.5 kb deletion of DNA. It is of interest that the 5' breakpoint of the deletion residues within an AT-rich region which has been proposed as a specific recognition signal for recombination events, while the 3' breakpoint lies within a cluster of L1 repetitive sequences (formerly known as Kpn I family repeats). The presence of the 3' breakpoints of several other deletions within this region of L1 repeats also suggests that such sequences might serve as hot spots for recombination and eventually lead to thalassemia deletions. The similarity of the 5' and 3' breakpoints of these delta beta-thalassemias underscores the putative regulatory role of the deleted and juxtaposed sequences on the expression of the gamma-globin genes in adult life. 相似文献
83.
FJ Cowan JT Warner FD Dunstan WD Evans JW Gregory HR Jenkins 《Archives of disease in childhood》1997,76(4):325-329
The prevalence of osteopenia in children with inflammatory bowel disease (IBD) is unknown. The effect of nutritional state, disease activity, and steroid therapy on bone mineral content (BMC) of whole body, lumbar spine, and left femoral neck measured by dual energy x ray absorptiometry in 32 children with IBD was assessed by comparison with 58 healthy local school children. Using the control data, a predicted BMC was calculated taking into account bone area, age, height, weight, and pubertal stage. The measured BMC in children with IBD was expressed as a percentage of this predicted value (% BMC). Mean (SD) % BMC was significantly reduced for the whole body and left femoral neck in the children with IBD (97.0 (4.5)% and 93.1 (12.0)% respectively, p < 0.05). Of the children with IBD, 41% had a % BMC less than 1 SD below the mean for the whole body and 47% at the femoral neck. Reduction in % BMC was associated with steroid usage but not with the magnitude of steroid dose, disease activity, or biochemical markers of bone metabolism. In conclusion, osteopenia is relatively common in childhood IBD and may be partly related to the previous use of steroids. 相似文献
84.
At birth, premature infants of 25-29 weeks gestation, at high risk for development of neonatal respiratory distress syndrome (RDS), were given a single dose (90 mg) of calf lung surfactant extract (CLSE) by intratracheal instillation. The frequency and severity of RDS were assessed with use of a simple radiographic scoring system in which pulmonary parenchymal densities and the prominence of the air-bronchogram effect were used as indicators of widespread atelectasis. Radiographs were obtained in surfactant-treated and control infants within the first 90 minutes of life as part of an initial evaluation of their pulmonary status. Subsequent examinations were performed at less than 24 hours and less than 48 hours of age. Radiographic assessment of lung disease compared consistently with coordinated data on oxygen and mean airway pressure requirements of the infants. Both indicated a significantly decreased frequency and severity of RDS in the infants treated with surfactant. The results provide supporting evidence of the effectiveness of exogenous lung surfactant replacement in mitigating RDS in very premature infants. 相似文献
85.
A retrospective study of 100 cerebral computed tomography scans interpreted as displaying subarachnoid hemorrhage was undertaken to determine the frequency of blood in the interpeduncular fossa as a useful radiographic sign. The results indicate that the interpeduncular fossa sign is second only to blood in the Sylvian fissure-circular sulcus area as a reliable indicator of subarachnoid hemorrhage on CT scans. 相似文献
86.
87.
A B van der Molen J W Groothoff G J Visser P H Robinson W H Eisma 《The Journal of hand surgery, European volume》1999,24(2):193-198
This study assessed the epidemiology, treatment, disability and time off work due to carpal injuries in the Netherlands in the period from 1990 to 1993. Most injuries were scaphoid fractures and carpal instabilities were rare. The time off work was considerable (mean, 155 days; median, 105 days; range, 12-1708 days). Patients with non-scaphoid fractures had the shortest time off work, followed by those with scaphoid fractures; patients with carpal instabilities had the longest time off work. Despite the significant time off work, the prognosis for return to work was excellent. 相似文献
88.
89.
Insertion of a screw biopsy stylet into a thin-walled biopsy needle greatly enhances detection of the needle during ultrasound-guided percutaneous biopsy. This technique is helpful when precise needle-tip localization is needed for biopsies of small lesions. 相似文献
90.
Tim Takken Raoul Engelbert Monique van Bergen Jaap Groothoff Jeroen Nauta Koen van Hoeck Marc Lilien Paul Helders 《Pediatric nephrology (Berlin, Germany)》2009,24(11):2217-2223
The six-minute walking test (6MWT) may be a practical test for the evaluation functional exercise capacity in children with
end-stage renal disease (ESRD). The aim of this study was to investigate the 6MWT performance in children with ESRD compared
to reference values obtained in healthy children and, secondly, to study the relationship between 6MWT performance with anthropometric
variables, clinical parameters, aerobic capacity and muscle strength. Twenty patients (13 boys and seven girls; mean age 14.1 ± 3.4 years)
on dialysis participated in this study. Anthropometrics were taken in a standardized manner. The 6MWT was performed in a 20-m-long
track in a straight hallway. Aerobic fitness was measured using a cycle ergometer test to determine peak oxygen uptake
( \textV· \textO\text2peak ) \left( {\mathop {\text{V}}\limits^\cdot {{\text{O}}_{\text{2peak}}}} \right) , peak rate (Wpeak) and ventilatory threshold (VT). Muscle strength was measured using hand-held myometry. Children with ESRD showed a reduced
6MWT performance (83% of predicted, p < 0.0001), irrespective of the reference values used. The strongest predictors of 6MWT performance were haematocrit and height.
Regression models explained 59% (haematocrit and height) to 60% (haematocrit) of the variance in 6MWT performance. 6MWT performance
was not associated with
\textV· \textO\text2peak {\mathop {\text{V}}\limits^\cdot {{\text{O}}_{\text{2peak}}}} , strength, or other anthropometric variables, but it was significantly associated with haematocrit and height. Children with
ESRD scored lower on the 6MWT than healthy children. Based on these results, the 6MWT may be a useful instrument for monitoring
clinical status in children with ESRD, however it cannot substitute for other fitness tests, such as a progressive exercise
test to measure
\textV· \textO\text2peak {\mathop {\text{V}}\limits^\cdot {{\text{O}}_{\text{2peak}}}} or muscle strength tests. 相似文献