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21.
Zhao HQ Rope AF Saal HM Blough-Pfau RI Hopkin RJ 《American journal of medical genetics. Part A》2003,(3):331-337
11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four patients with partial trisomy 11q, none of which arose from the common 11/22 translocation. Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2. 相似文献
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The effects of CPAP and CNEP on lung mechanics and lung volumes were investigated in a group of 12 healthy newborn infants. Both resulted in a mild suppression of respiration. The fall in TPR50 was far greater during CPAP than during CNEP. Both led to a one third fall in dynamic compliance. Approximately 50% of the distending pressure was transmitted to the mediastinal structures whether applied as CPAP or CNEP. 相似文献
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Simple clinical measurements were performed on a group of 23 very low birth weight babies (less than 1500 g and less than 32 weeks gestation), and combined with pulmonary function studies in 13 cases. The studied included a special single-breath analysis, or Tidal Resistance Profile, which enabled us to detect air trapping. 2 infants developed classical Wilson-Mikity syndrome and 2 further infants exhibited a milder, shorter form of the same disorder. All 4 survived. Results suggest that all infants in this maturity group are at risk of developing Wilson-Mikity syndrome, and that it comprises a wide spectrum of respiratory dysfunction. 相似文献
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The crying vital capacity was measured in 10 healthy, term babies after amniocentesis during pregnancy, and in 10 control babies after normal pregnancies. The mean ratio of crying vital capacity to body weight was significantly lower after amniocentesis. This may be caused by the alteration in the lung fluid volume and the diminished intrauterine respiratory movements. 相似文献
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We examined the species diversity and abundance of Collembola at 32 sampling points along a gradient of metal contamination in a rough grassland site (Wolverhampton, England), formerly used for the disposal of metal-rich smelting waste. Differences in the concentrations of Cd, Cu, Pb and Zn between the least and most contaminated part of the 35 metre transect were more than one order of magnitude. A gradient of Zn concentrations from 597 to 9080 microg g(-1) dry soil was found. A comparison between field concentrations of the four metals and previous studies on their relative toxicities to Collembola, suggested that Zn is likely to be responsible for any ecotoxicological effects on springtails at this site. Euedaphic (soil dwelling) Collembola were extracted by placing soil cores into Tullgren funnels and epedaphic (surface dwelling) species were sampled using pitfall traps. There was no obvious relationship between the total abundance, or a range of commonly used diversity indices, and Zn levels in soils. However, individual species showed considerable differences in abundance. Metal "tolerant" (e.g., Ceratophysella denticulata) and metal "sensitive" (e.g., Cryptopygus thermophilus) species could be identified. Epedaphic species appeared to be influenced less by metal contamination than euedaphic species. This difference is probably due to the higher mobility and lower contact with the soil pore water of epedaphic springtails in comparison to euedaphic Collembola. In an experiment exposing the standard test springtail, Folsomia candida, to soils from all 32 sampling points, adult survival and reproduction showed small but significant negative relationships with total Zn concentrations. Nevertheless, juveniles were still produced from eggs laid by females in the most contaminated soils with 9080 microg g(-1) Zn. Folsomia candida is much more sensitive to equivalent concentrations of Zn in the standard OECD soil. Thus, care should be taken in extrapolating the results of laboratory toxicity tests on metals in OECD soil to field soils, in which, the biological availability of contaminants is likely to be lower. Our studies have shown the importance of ecotoxicological effects at the species level. Although there may be no differences in overall abundance, sensitive species that are numerous in contaminated sites, and which may play important roles in decomposition ("keystone species") can be greatly reduced in numbers by pollution. 相似文献
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Evidence for an association between environmental tobacco smoke exposure and birthweight: a meta-analysis and new data 总被引:7,自引:0,他引:7
Because of the strong association of active smoking with fetal growth retardation, increasing interest has focused on whether there is also an association with exposure to environmental tobacco smoke (ETS). We examined this issue in a retrospective study and by conducting a review of the literature and data pooling. In our study, nonsmoking women with singleton livebirths born in 1986–87 ( n = 992) provided information on exposure to ETS for 1 h or more per day and paternal smoking. The risk of low birthweight (LBW, < 2500 g) was not increased in infants of ETS-exposed women, but there was a somewhat increased risk for LBW at term (adjusted odds ratio [OR] 1.8, 95% confidence interval [CI] 0.6, 4.8) and small-for-gestational-age (< 10th percentile of weight; OR = 1.4, 95% CI = 0.8, 2.5). These results were in the range of 16 other studies in the literature that had odds ratios from 1.0 to 2.2. A weighted average of the results of all studies on LBW at term or small-for-gestational-age yielded a pooled estimate of 1.2 [95% CI = 1.1, 1.3] in nonsmoking women. The pooled estimate of mean birthweight indicated a decrement of 28 g with ETS exposure of nonsmoking women [95% CI = −41, −16], with a greater decrement (about 40 g) seen among more homogeneous studies. 相似文献