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排序方式: 共有396条查询结果,搜索用时 953 毫秒
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Baeyens A Claes K Willems P De Ruyck K Thierens H Vral A 《Cancer Genetics and Cytogenetics》2005,163(2):106-112
Recently, multiple studies have shown that a sequence variant in CHEK2 (CHEK2 1100delC) plays a role in the susceptibility to breast cancer. This mutation should confer about a twofold increased breast cancer risk in women and a 10-fold increased risk in men. Because the CHEK2 gene plays a critical role in DNA damage repair and the CHEK2 1100delC variant confers susceptibility to breast cancer, we investigated if patients carrying the CHEK2 1100delC mutation are characterized by an enhanced chromosomal radiosensitivity. To this end, familial breast cancer patients, sporadic breast cancer patients, and healthy women, considered in our previously studied to determine their chromosomal radiosensitivity with the G2 and G0-MN assay, were all tested in present study for the presence of the CHEK2 1100delC variant. The 1100delC variant was detected in none of the 100 healthy individuals, in 1 of 100 (1%) unselected breast cancer patients and in 3 of 78 (3.8%) breast cancer patients with a family history of breast cancer. The breast cancer patients with the CHEK2 1100delC genotype had a mean radiation-induced yield of chromatid breaks that was not significantly different from that of the healthy control group. Although the mean yield of micronuclei (MN) was significantly higher compared to the healthy control group, this higher mean MN yield was due to a single patient who had a very high number of MN compared to the parallel control. Our data suggest that breast cancer patients with a CHEK2 1100delC mutation are in general not characterized by a distinct enhanced chromosomal radiosensitivity. These conclusions are, however, very preliminary, because of the small numbers of CHEK2 1100delC breast cancer patients studied. 相似文献
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Bouman A van Rossum E Ambergen T Kempen G Knipschild P 《Journal of the American Geriatrics Society》2008,56(3):397-404
OBJECTIVES: To evaluate the effectiveness of a home visiting program on health-related measures in a population of older people with poor health status.
DESIGN: Randomized, clinical trial.
SETTING: Community-dwelling citizens in the Netherlands.
PARTICIPANTS: Three hundred thirty people aged 70 to 84 randomly assigned to an intervention group (n=160) or a control group (n=170).
INTERVENTION: Eight home visits, lasting 1 hour or more, with telephone follow-up, over an 18-month period, conducted by experienced home nurses under supervision of a public health nurse; key elements of the (systematic) visits were assessment of health problems and risks, advice, and referral to professional and community services.
MEASUREMENTS: Self-rated health, functional status, quality of life, and changes in self-reported problems.
RESULTS: No differences were found between the intervention and control group in these and other outcome measures at the end of the intervention period (18 months).
CONCLUSION: The home visiting program did not appear to have any effect on the health status of older people with poor health and are probably not beneficial for such persons. 相似文献
DESIGN: Randomized, clinical trial.
SETTING: Community-dwelling citizens in the Netherlands.
PARTICIPANTS: Three hundred thirty people aged 70 to 84 randomly assigned to an intervention group (n=160) or a control group (n=170).
INTERVENTION: Eight home visits, lasting 1 hour or more, with telephone follow-up, over an 18-month period, conducted by experienced home nurses under supervision of a public health nurse; key elements of the (systematic) visits were assessment of health problems and risks, advice, and referral to professional and community services.
MEASUREMENTS: Self-rated health, functional status, quality of life, and changes in self-reported problems.
RESULTS: No differences were found between the intervention and control group in these and other outcome measures at the end of the intervention period (18 months).
CONCLUSION: The home visiting program did not appear to have any effect on the health status of older people with poor health and are probably not beneficial for such persons. 相似文献
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Marianne Hoogeveen‐Westerveld Rosemary Ekong Sue Povey Karin Mayer Nathalie Lannoy Frances Elmslie Martina Bebin Kira Dies Catherine Thompson Steven P. Sparagana Peter Davies Ans van den Ouweland Dicky Halley Mark Nellist 《Human mutation》2013,34(1):167-175
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a complex that inhibits the mammalian target of rapamycin (mTOR) complex 1 (TORC1). Here, we investigate the effects of 78 TSC2 variants identified in individuals suspected of TSC, on the function of the TSC1–TSC2 complex. According to our functional assessment, 40 variants disrupted the TSC1–TSC2‐dependent inhibition of TORC1. We classified 34 of these as pathogenic, three as probably pathogenic and three as possibly pathogenic. In one case, a likely effect on splicing as well as an effect on function was noted. In 15 cases, our functional assessment did not agree with the predictions of the SIFT amino acid substitution analysis software. Our data support the notion that different, nonterminating TSC2 mutations can have distinct effects on TSC1–TSC2 function, and therefore, on TSC pathology. 相似文献
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Thoracic positron emission tomography using 18F-fluorodeoxyglucose for the evaluation of residual mediastinal Hodgkin disease. 总被引:14,自引:2,他引:14
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M R Weihrauch D Re K Scheidhauer S Ansén M Dietlein S Bischoff H Bohlen J Wolf H Schicha V Diehl H Tesch 《Blood》2001,98(10):2930-2934
Residual mediastinal masses are frequently observed in patients with Hodgkin disease (HD) after completed therapy, and the discrimination between active tumor tissue and fibrotic residues remains a clinical challenge. We studied the diagnostic value of metabolic imaging by 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) in detecting active mediastinal disease and predicting relapse. Twenty-eight HD patients with a residual mediastinal mass of at least 2 cm after initial therapy or after salvage chemotherapy were prospectively assigned to 29 examinations with FDG PET and were evaluated as 29 "subjects." Patients were monitored for at least 1 year after examination and observed for signs of relapse. Median follow-up was 28 months (range, 16 to 68 months). A PET-negative mediastinal tumor was observed in 19 subjects, of whom 16 stayed in remission and 3 relapsed. Progression or relapse occurred in 6 of 10 subjects with a positive PET, whereas 4 subjects remained in remission. The negative predictive value (negative PET result and remission) at 1 year was 95%, and the positive predictive value (positive PET result and relapse) was 60%. The disease-free survival for PET-negative and PET-positive patients at 1 year was 95% and 40%, respectively. The difference was statistically significant. A negative FDG PET indicates that an HD patient with a residual mediastinal mass is unlikely to relapse before 1 year, if ever. On the other hand, a positive PET result indicates a significantly higher risk of relapse and demands further diagnostic procedures and a closer follow-up. 相似文献
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Umberto Vespasiani-Gentilucci Antonio De Vincentis Josepmaria Argemi Giovanni Galati Eduardo Ansò Giuseppe Patti Antonio Picardi 《Archives of Medical Science》2013,9(4):635-639