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21.
Adelmo M. B. de Barros Filho Ione C. Barbosa Hugo Maia Jr Consuelo C. Genes Elsimar M. Coutinho 《Gynecological endocrinology》2013,29(9):511-517
A retrospective review of the medical records of 258 postmenopausal patients using estradiol and testosterone implants as combined hormone therapy was carried out to evaluate the effects of testosterone on the endometrium after two years of continuous use. Endometrial thickness was measured by ultrasonography. Histology was performed on samples of thickened endometria obtained during hysteroscopy with biopsy. In the 44 patients in whom endometrial thickening was >5 mm at the end of the second year of implant use, the most frequent finding at hysteroscopy was polypoid lesion in 61.3% of cases, followed by normal uterine cavity in 31.8% of cases and submucous myoma in 6.8%. Histology of the endometrial samples confirmed endometrial polyp in 38.6% of cases, a histologically normal endometrium in 31.8% of cases, simple endometrial hyperplasia in 20.4% of cases, and myoma and atrophic endometrium in 4.5%. It is possible that testosterone may exert its antiproliferative effects on the endometrium but not on polyps in an action similar to that exerted by combined estrogen/progestin therapies. A greater incidence of simple, low-grade endometrial hyperplasia was found in our study compared with studies using continuous estrogen/progestin regimens. The use of progestins as the ideal endometrial protection should therefore be reconsidered. 相似文献
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PreCimp: Pre‐collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables 下载免费PDF全文
Young Jin Kim Juyoung Lee Bong‐Jo Kim TD‐Genes Consortium Taesung Park 《Genetic epidemiology》2017,41(1):41-50
Imputation is widely used for obtaining information about rare variants. However, one issue concerning imputation is the low accuracy of imputed rare variants as the inaccurate imputed rare variants may distort the results of region‐based association tests. Therefore, we developed a pre‐collapsing imputation method (PreCimp) to improve the accuracy of imputation by using collapsed variables. Briefly, collapsed variables are generated using rare variants in the reference panel, and a new reference panel is constructed by inserting pre‐collapsed variables into the original reference panel. Following imputation analysis provides the imputed genotypes of the collapsed variables. We demonstrated the performance of PreCimp on 5,349 genotyped samples using a Korean population specific reference panel including 848 samples of exome sequencing, Affymetrix 5.0, and exome chip. PreCimp outperformed a traditional post‐collapsing method that collapses imputed variants after single rare variant imputation analysis. Compared with the results of post‐collapsing method, PreCimp approach was shown to relatively increase imputation accuracy about 3.4–6.3% when dosage r2 is between 0.6 and 0.8, 10.9–16.1% when dosage r2 is between 0.4 and 0.6, and 21.4 ~ 129.4% when dosage r2 is below 0.4. 相似文献
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Angiotensin-I-converting enzyme insertion/deletion polymorphism and high urinary albumin concentration in French Type 2 diabetes patients. 总被引:1,自引:0,他引:1
S Hadjadj Y Gallois F Alhenc-Gelas G Chatellier M Marre N Genes M Lievre J Mann J Menard D Vasmant 《Diabetic medicine》2003,20(8):677-682
AIMS: Family-based studies suggest a genetic basis for nephropathy in Type 2 diabetes. The angiotensin-I-converting enzyme (ACE) gene is a candidate gene for Type 1 diabetes nephropathy. We assessed the association between high urinary albumin concentration and ACE insertion/deletion (I/D) polymorphism, in French Type 2 diabetes patients. METHODS: We studied 3139 micro/macroalbuminuric French patients recruited in the DIABHYCAR Study, an ACE inhibition trial in Type 2 diabetes patients with renal and cardiovascular outcomes. The main inclusion criteria were age >/= 50 years, urinary albumin concentration >/= 20 mg/l assessed centrally during two consecutive screening visits, and plasma creatinine concentration = 150 micro mol/l. These patients were compared with 605 normoalbuminuric (NA; urinary albumin concentration < 10 mg/l at first screening for the DIABHYCAR Study) French patients. ACE I/D genotype was determined by nested polymerase chain reaction. RESULTS: The ACE I/D polymorphism was in Hardy-Weinberg equilibrium. The distribution of genotypes did not differ significantly between micro/macroalbuminuric and NA patients: 552 and 115 II, 1468 and 282 ID, 1119 and 208 DD (P = 0.67). However, the ACE D allele was more frequent among normotensive micro/macroalbuminuric patients than among NA patients (P = 0.039). CONCLUSIONS: The ACE I/D polymorphism was not associated with high urinary albumin concentration in French Type 2 diabetes patients. 相似文献
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Tikhonoff V Kuznetsova T Stolarz K Bianchi G Casiglia E Kawecka-Jaszcz K Nikitin Y Tizzone L Wang JG Staessen JA;European Project on Genes in Hypertension Investigators 《Blood pressure monitoring》2003,8(4):151-154
METHODS: The association of blood pressure (BP) with the beta-adducin C1797 T polymorphism was investigated in 388 men and 456 women aged 18-60 years recruited from three European populations (Cracow, Poland, n=300; Novosibirsk, Russian Federation, n=274; Mirano, Italy; n=270). Phenotypes included conventional measurements of BP obtained at the second contact with the subjects and 24-h ambulatory BP. Subjects were genotyped for the beta-adducin C1797 T polymorphism. Both a population-based association study and a family-based analysis were performed. RESULTS: Urinary sodium excretion was higher in Cracow than in Mirano (241 versus 185 mmol/day, P<0.05) and intermediate in Novosibirsk (206 mmol/day). The beta-adducin T allele (15.2 versus 9.1%, P<0.0001) was more prevalent in Mirano than in the two Slavic centres. In both population-based and family-based association analyses, there was significant heterogeneity between Slavic and Italian subjects in the phenotype-genotype relationships with beta-adducin. Adjusted population-based analyses demonstrated that in the two Slavic centres, values of systolic pressure obtained by 24-h, daytime and night-time ambulatory monitoring, but not those measured by conventional sphygmomanometry at home, were significantly higher in T allele carriers than in CC homozygotes. These results were confirmed in the family-based analysis of offspring using a quantitative transmission disequilibrium test. CONCLUSIONS: Phenotype-genotype associations involving blood pressure are influenced by the technique and conditions of the BP measurement as well as by the overall ecogenetic context. 相似文献
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肝癌相关蛋白HCAP1的表达、抗体制备及其亚细胞定位 总被引:2,自引:1,他引:2
目的:肝癌相关基因HCAP1蛋白产物的表达、抗体的制备及其亚细胞定位。方法:原核表达HCAP1蛋白;纯化的HCAP1蛋白免疫新西兰大白兔,制备多抗血清;Western blot分析其在肝癌细胞株的表达;通过荧光免疫细胞化学进行亚细胞定位。结果:获得了较纯的HCAP1表达蛋白和高效价的、高特异性的抗HCAP1的多抗血清,并且发现HCAP1大部分位于胞浆,少量分布于核仁。结论:表达的HCAP1蛋白和抗HCAP1的多抗血清可用于HCAP1基因功能的研究;HCAP1功能场所可能位于核仁。 相似文献
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