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OBJECTIVE: Screening colonoscopy has been shown to reduce mortality and cancer stage in hereditary nonpolyposis colorectal cancer (HNPCC) individuals. However, the benefit of screening in intermediate risk groups is unknown. The most recent national guidelines have recommended a reduction of screening frequency for the intermediate risk group. Therefore, this study aims to compare the results of colonoscopic screening in HNPCC and intermediate risk groups and assess the effect of the most recent screening protocol recommendations. METHOD: A total of 244 individuals; 108 from HNPCC families (28 mismatch repair gene carriers) and 136 from intermediate risk families were referred for regular colonoscopic screening by the Regional Genetics Service. Findings from 417 colonoscopies performed between 1992 and 2003 were evaluated. RESULTS: A total of three cancers, 39 adenomas and 41 hyperplastic polyps were found in the HNPCC group compared with one cancer, 22 adenomas and 19 hyperplasic polyps in the intermediate risk group. If the recent screening guidelines for the intermediate group were applied, then 89 (44%) fewer colonoscopies would have been performed. Although no cancers would have been missed, six adenomas (mean size = 5.7 mm, range 2-10 mm) with two graded as severely dysplasic and six hyperplastic polyps would not have been detected. CONCLUSION: The detection rate and distribution of adenomas were similar in both groups. If the new colonoscopic screening recommendations for the intermediate risk group had been applied, a small number of significant lesions would have been missed. 相似文献
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Martin Haupt Alexander Kurz Stefan Pollmann Barbara Romero 《Journal of neurology》1992,239(5):248-250
Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed. 相似文献
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Douglas M. Silverstein Ira Greifer Vaughn Folkert Boyce Bennett Howard E. Corey Adrian Spitzer 《Pediatric nephrology (Berlin, Germany)》1994,8(6):752-753
We report a patient who developed Henoch-Schönlein purpura (HSP) 13 years after he presented with IgA nephropathy (IgAN). In both HSP and IgAN renal biopsy most commonly reveals focal proliferative glomerulonephritis on light microscopy and immunofluorescence displays mesangial IgA deposits. In addition, patients with HSP or IgAN have elevated serum IgA levels, circulating IgA immune complexes, IgA-bearing lymphocytes, immunoglobulin-producing cells, and binding of IgG to glomerular components of similar molecular weight. The occurrence of both diseases in the same patient or the same families and the presence of immune abnormalities compatible with HSP or IgAN in relatives of patients with these diseases suggest a common pathogenesis. 相似文献
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Kousaku Matsubara M.D. Kei Suzuki M.D. Ying Wei Lin M.D. Toshiyuki Yamamoto M.D. Shigeru Ohta M.D. 《Pediatrics international》1991,33(4):482-487
We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN. 相似文献
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Malcolm E. Richardson Samuel Menahem James L. Wilkinson 《International journal of cardiology》1991,30(3):351-353
In this report, we give details of two families in which fixed subaortic stenosis was found in more than one member. It is rare for this entity to show familial incidence. 相似文献
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目的:探讨意外伤害及事故倾性的家族聚集性,为将来阐明遗传因素在其中的作用提供初步线索。方法:以事故倾性儿童为先证者,采用病例对照研究方法研究579个核心家系(291个先证家系和288个对照家系),分析意外伤害及事故倾性的家族聚集性。结果:病例组有36.4%核心家系至少有一名成员发生过伤害,高于对照组9.0%,差异有统计学意义。病例组的父、母、同胞伤害发生率均高于对照组(差异有显著性)。但病例组与对照组一级亲属的事故倾性发生率无显著性差异。多因素Logistic回归分析发现,父、母、同胞发生伤害都是儿童事故倾性的危险因素,儿童喜欢冒险、不能集中精力也和事故倾性有关联。结论:意外伤害存在家族聚集性,遗传因素可能在其中发挥一定作用。没有发现事故倾性具有家族聚集性。 相似文献
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Complex segregation analyses of bone mineral density in Chinese 总被引:3,自引:1,他引:2
China has the largest population in the world; approximately 7% of the total population suffers from primary osteoporosis. Osteoporosis is mainly characterized by low bone mineral density (BMD). In the present study, familial correlation and segregation analyses for spine and hip BMDs have been undertaken for the first time in a Chinese sample composed of 401 nuclear families with a total of 1,260 individuals. The results indicate a major gene of additive inheritance for hip BMD, whereas there is no evidence of a major gene influencing spine BMD. Significant familial residual effects are found for both traits, and heritability estimates (±SE) for spine and hip BMDs are 0.807(0.099) and 0.897(0.101), respectively. Sex and age differences in genotype‐specific average BMD are also observed. This study provides the first evidence quantifying the high degree of genetic determination of BMD variation in the Chinese. 相似文献
10.
HBV感染及复制状态在HCC家庭聚集性中的作用研究 总被引:3,自引:0,他引:3
应用PCR方法研究HBV感染及复制状态在HCC家庭聚集性中的作用。研究结果发现,肝癌高发家庭成员和非癌家庭成员中的HBV-DNA阳性率分别为21.8%(12/55)和7.3%(4/55),经统计学分析,两组阳性率存在非常显著性差异(P〈0.01)。同时发现肝癌高发家庭成员HBV-DNA也呈家庭聚集现象。研究结果提示,HBV感染的家庭聚集性并处于复制状态可能是HCC家庭聚集性的主要原因之一。 相似文献