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71.
Molecular analysis of PKU in Ireland 总被引:1,自引:0,他引:1
CA O'Neill RC Eisensmith DT Croke ER Naughten SF Cahalane SLC Woo 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):43-44
Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of <10%. VNTR analysis showed that the R408W mutation is associated with the VNTR-8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR-3; an observation which has led several groups to propose a Balto-Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR-8 chromsome background in the Irish/Celtic population. 相似文献
72.
Fructosamine and glycated haemoglobin were measured simultaneously in 147 children with diabetes. If glycated haemoglobin is considered as the 'gold standard' for long term glycaemic control, then fructosamine is a poor indicator of actual glycated haemoglobin values, with wide 95% confidence (fiducial) limits. This shows that it is impossible to accurately predict glycated haemoglobin concentrations and therefore, by implication, longer term glycaemic control, from measurements of fructosamine. As the major studies on the prevention of microvascular complications in diabetes have used glycated haemoglobin levels to assess glycaemic control, it is suggested that this measurement should be used in all children with diabetes in preference to the measurement of fructosamine. 相似文献
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Background
In 2002, the World Health Organization published a health system performance ranking for 191 member countries. The ranking was based on five indicators, with fixed weights common to all countries.Methods
We investigate the feasibility and desirability of using mathematical programming techniques that allow weights to vary across countries to reflect their varying circumstances and objectives.Results
By global distributional measures, scores and ranks are found to be not very sensitive to changes in weights, although differences can be large for individual countries.Conclusions
Building the flexibility of variable weights into calculation of the performance index is a useful way to respond to the debates and criticisms appearing since publication of the ranking. 相似文献78.
Schizophrenia is associated with a cerebral glutathione deficit, which may leave the brain susceptible to oxidants. To study the consequences of a glutathione deficit, we treated developing rats with L-buthionine-(S,R)-sulfoximine (BSO), an inhibitor of glutathione synthesis, and later investigated their behaviour until adulthood. Since rodents may in some occasions compensate for a glutathione deficit by ascorbic acid (AA), we used Osteogenic Disorder Shionogi (ODS) mutant rats, which like humans, cannot synthetize ascorbic acid. Moreover, as hyperactivity of the dopaminergic system may be associated with schizophrenia, some rats were treated with the dopamine uptake inhibitor GBR 12909. Whereas ODS rats treated with either BSO or GBR 12909 alone had normal behaviour, rats treated with both BSO and GBR 12909 failed to discriminate between familiar and novel objects although other behaviours proved to be normal. In contrast, nonmutant rats were not affected by treatment with BSO and GBR 12909. Our results suggest that low brain glutathione and ascorbic acid levels associated with a perturbation of the dopaminergic system actively participate in the development of some cognitive deficits affecting schizophrenic patients. 相似文献
79.
Ventral hernia repair: a study of current practice 总被引:5,自引:5,他引:0
Ventral wall hernias are common; despite this, there are no guidelines on the best surgical management. The aim of this study
was to examine the types of repair in use for abdominal wall hernias in the West of Scotland over a 3-month period. Data were
gathered on 120 patients. There were 60 incisional, 32 umbilical, and 28 epigastric hernias. The main indication for repair
was pain (78%), while 12 patients (10%), presented acutely with incarceration or strangulation. The most common method of
repair was sutured (55%), followed by mesh (29%) and Mayo repair (16%). There was no correlation between use of mesh and hernia
size or whether repair was for a recurrent hernia. Surgical practice varies widely in the repair of ventral wall hernias.
Clinical trials are required to establish the best method of repair for this common condition.
Electronic Publication 相似文献
80.
目的构建人端粒酶逆转录酶(hTERT)片段的真核表达质粒。方法用RT-PCR方法从肝癌组织中提取总RNA扩增出hTERT基因片段,将其连接pGEM-TEasy质粒上,将重组质粒pGEM-T-hTERT和pEGFP-C3真核绿色荧光蛋白表达载体同时用HindⅢ和BamHⅠ双酶切后进行连接,再将重组的pEGFP-C3-hTERT基因片段转染NIH3T3细胞,经G418筛选获得稳定转染的细胞系,荧光倒置显微镜观察并检测转染细胞的hTERTmRNA表达水平。结果DNA序列分析证实了重组载体pGEM-T-hTERT和pEGFP-C3-hTERT内插入片段的碱基组成与公开发表的hTERT序列一致。转染pEGFP-C3-hTERT的NIH3T3细胞可见绿色荧光,并检出高水平表达的hTERT。结论成功构建高效表达hTERT的真核表达载体,为以hTERT为靶点的肿瘤治疗打下实验基础。 相似文献