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1.
Vascular-related gene polymorphism can affect the susceptibility of coronary heart disease. In current study, we aimed to evaluate the contribution of four vascular-related gene CpG-SNPs to coronary heart disease (CHD). A total of 784 angiography-proven CHD patients and 746 non-CHD controls were included in the current association study. The four CpG-SNPs (including VEGFA rs1005230, ACE rs4316, CST3 rs3827143 and AGTR1 rs275653) were genotyped using the Sequenom MassARRAY platform. All genotype distribution of four SNPs met HWE. Among the four CpG-SNPs, none was found to be associated with CHD on both genotype and allele levels. Further subgroup tests by age or gender were unable to observe any significant associations of them with CHD. Our case-control study showed that none of four CpG-SNPs in the vascular-related genes was associated with the risk of CHD in Han Chinese, although we could not exclude other genetic variants of these vascular-related genes with contribution to CHD. 相似文献
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3.
《Sleep medicine》2020
BackgroundThe peripheral level of matrix metalloproteinase (MMP)-9 and polymorphism of MMP9 -1562C>T in patients with obstructive sleep apnea (OSA) remains controversial. Therefore, the aims of this systemic review and meta-analysis are to assess the MMP9 level in OSA patients and identify the relationship between MMP9 -1562C>T and OSA susceptibility.MethodsThis systematic review was performed following the PRISMA guideline. We searched for studies in major databases, identifying those indexed from inception to July 3, 2019 which related to MMP9 level, MMP9 -1562C>T and OSA. The pooled standardized mean differences (SMDs) and 95% confidence interval (CI) of MMP9 levels were calculated. In addition, the relationship between MMP9 -1562C>T and OSA susceptibility was assessed by three genetic models. The heterogeneity analysis and calculation of the pooled odds ratio (OR) were also performed, followed by quality assessment using the Newcastle-Ottawa Scale (NOS).ResultsIn sum, our review included 15 eligible studies regarding MMP9 level and three regarding MMP9 -1562C>T. The pooled results showed that peripheral level of MMP9 was increased in OSA patients (SMD = 1.37; 95% CI = 1.15–1.59). Furthermore, significant difference of MMP9 level can be found between severe and mild-to-moderate OSA patients (SMD = 28.17; 95% CI = 4.23–52.11) or between moderate-severe and mild OSA (SMD = 36.62; 95% CI = 12.19–61.04). However, no relationship was observed between MMP9 -1562C>T and OSA susceptibility in three genetic models (Homozygote model, OR = 1.37; 95% CI = 0.87–2.18); (Recessive model, OR = 1.42; 95% CI = 0.83–2.42); (Allele model, OR = 1.07; 95% CI = 0.96–1.18).ConclusionsThis systemic review and meta-analysis indicated that the level of MMP9 was increased in patients with OSA and this increase is relevant to OSA severity. Moreover, the relationship between MMP9 -1562 C>T and OSA susceptibility has currently not been proven by current merging values. Further analyses with larger sample size are required to verify these associations. 相似文献
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脂蛋白脂酶Hind Ⅲ基因多态性与动脉硬化性脑梗死的关系 总被引:1,自引:0,他引:1
目的研究脂蛋白脂酶HindⅢ基因多态性与动脉硬化性脑梗死发病的关系及其对血脂、颈动脉斑块的影响。方法选择166例动脉硬化性脑梗死患者,采用聚合酶链反应-限制性片段长度多态性分析检测脂蛋白脂酶的HindⅢ基因多态性,颈动脉超声多普勒检查颈总动脉内膜中层厚度和颈动脉斑块,并与72名健康对照比较。结果在脑梗死组中H+H+基因型频率和H+等位基因频率明显高于对照组(OR=2.267,P=0.004;OR=1.903,P=0.004),而血脂水平、颈总动脉内膜中层厚度、颈动脉斑块分级与对照组比较差异无统计学意义。结论脂蛋白脂酶的HindⅢ基因多态性与脑梗死的关系密切,H+H+基因型可能是脑梗死的危险因素。 相似文献
5.
CYP2E1 and ALDH2 Genotypes and Alcohol Dependence in Japanese 总被引:2,自引:0,他引:2
Kazuhiko Iwahashi Yoshinori Matsuo Hiroshi Suwaki Kazuhiko Nakamura Yoshiyuki Ichikawa 《Alcoholism, clinical and experimental research》1995,19(3):564-566
The genotypes of the CYP2E1 and ALDH2 loci of alcoholic (alcohol dependence) and nonalcoholic (healthy) Japanese were investigated to examine the relationship between the polymorphism of CYP2E1 (C1 /C2 ) and ALDH2 ( ALDH2*1/ALDH2*2 ), and the susceptibility to alcoholism. There was no significant difference in C2 gene frequency between alcoholics (0.19) and nonalcoholics (controls) (0.20), whereas there was a significant difference in ALDH2 allele frequency, suggesting that, in Japanese, the C2 genotype of CYP2E1 may have nothing to do with the risk of developing alcohol dependence. However, the ALDH2*1 allele may influence drinking behavior and the development of alcohol dependence. Furthermore, racial interethnic differences in the frequency of the mutated allele of the CYP2E1 gene (CJ were found, like the ALDH2 gene. Japanese healthy controls showed a significantly higher frequency of the C2 allele than did Swedish healthy controls (0.05; reported by Persson et al., FEBS Lett. 319:207-211,1993). 相似文献
6.
湖北地区汉族变应性哮喘患儿Tim-3启动子区基因多态性研究 总被引:9,自引:0,他引:9
目的 探讨湖北地区汉族儿童T细胞免疫球蛋白黏蛋白域蛋白.3(Tim-3)启动子区1541位C〉T和574位G〉T单核苷酸变异及其与变应性哮喘易感性之间的关系。方法 分别采用聚合酶链反应.限制性片段长度多态性(PCR-RFLP)和引物特异PCR-核酸序列测定技术检测湖北143例哮喘患儿和72名健康儿童Tim-3启动子区1541位C〉T和574位G〉T单核苷酸变异,讣算基因型和等位基因频率。结果 湖北地区健康儿童Tim-3启动子区1541位C/C、C/T和T/T基因型频率分别是0.961、0.039和0,而哮喘患儿频率分别为0.935、0.065、0,其基因型频率与对照组差异无统计学意义(r=0.3825,P=0.5362);湖北健康儿童中Tim-3启动子区574位G/G、G/T和T/T基因型频率分别为0.992、0.008和0,而哮喘患儿频率分别为0.941、0.059、0,两组基因型频率差异有统计学意义(χ^2=4.134,P=0.042)。结论 湖北汉族儿童Tim-3启动子区存在多态性变异,其中574位G〉T多态性可能与湖北汉族儿童变应性哮喘易感性有关。 相似文献
7.
目的 探讨中国人过氧化物酶体增殖物激活受体γ(PPARγ)基因外显子6 C161T多态性与糖皮质激素性骨质疏松症(GIO)的相关关系。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法测定208例正常健康人(Ⅰ组)、168例非GIO患者(Ⅱ组)和104例GIO患者(Ⅲ组)PPARγ基因外显子6 C161T的基因型。应用双能X线骨密度仪(DEXA)测定股骨、腰椎等部位的骨密度。 结果 外显子6 C161T有CC、CT、TT 3种基因型。GIO组CC基因型频率显著低于正常对照组;CT和TT基因型频率显著高于正常对照组。非GIO组、应用激素组(GIO组+非GIO组)与正常对照组比较,各基因型频率差异均无统计学意义。正常对照组C161T的CC基因型组各部位的骨密度有高于CT和TT基因型组的趋势,但差异无统计学意义。非GIO组和GIO组C161T的CC基因型组腰椎的骨密度明显高于CT和TT基因型组 (P < 0.05),分别为非GIO组CC型(1.04±0.17) g/cm2,CT+TT型(1.02±0.07) g/cm2;GIO组CC型(0.94±0.12) g/cm2,CT+TT型(0.83±0.08) g/cm2。经年龄、体重指数等因素校正后,差异仍有统计学意义(P < 0.05)。 结论 PPARγ基因C161T基因型在正常人和应用激素患者之间无明显差异,它可能与肾小球肾炎的发病无关。C161T基因型在GIO组和正常对照组之间差异有统计学意义,它可能与糖皮质激素性骨质疏松症的发病有关。PPARγ基因C161T多态性与应用糖皮质激素患者腰椎的骨密度有关。等位基因C可能是骨量的保护因子,它可能与应用糖皮质激素后骨量的丢失有关。 相似文献
8.
Cav1.1基因26内含子67位点A/G多态性与甲状腺功能亢进性周期性瘫痪的相关性研究 总被引:2,自引:0,他引:2
目的探讨钙通道α1亚基(Cav1.1)基因26内含子-67A/G多态性与男性甲状腺功能亢进(简称甲亢)性周期性瘫痪(TPP)的相关性。方法采用多聚酶链反应-单链构象多态性(PCR-SSCP)方法检测46例男性TPP患者(TPP组)、68例男性甲亢患者(GD组)和72名男性健康对照者(CON组)Cav1.1基因26内含子-67A/G多态性。分析比较此多态位点基因型和等位基因在不同人群中分布的差异。结果(1)TPP组、GD组及CON组AG+GG基因型频率分别为47.83%、14.71%、29.17%,G等位基因频率分别为44.57%、13.24%、27.78%。(2)TPP组AG+GG基因型频率明显高于GD组和CON组(OR=5.32,P〈0.01;OR=2.23,P=0.04),TPP组G等位基因频率明显高于GD组和CON组(OR=5.27,P〈0.01;OR=2.09,P=0.008)。结论Cav1.1基因26内含子-67位点A/G多态性与男性TPP有相关性。 相似文献
9.
Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P<0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P>0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P<0.05;51.9%vs.40.3%,χ2=5.803,P<0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han. 相似文献
10.
载脂蛋白E基因多态性与脑梗死的相关性分析 总被引:12,自引:0,他引:12
目的 探讨载脂蛋白 E基因多态性与脑梗死的关系。方法 通过聚合酶链反应 -限制性片段长度多态性 (PCR- RFL P)分析结合 DNA直接银染技术检测 6 6例脑梗死 (CI)患者的载脂蛋白 E(Apo E)基因型 (其中家系中有明确脑梗死先证者的家族聚集性脑梗死 (FMACI)亚组 2 6例 ,家系中无脑卒中史的非家族聚集性脑梗死 (NF-MACI)亚组 4 0例 ) ,并与 90例健康对照组比较 ,同时检测血脂、脂蛋白 (a) [L P(a) ]及部分载脂蛋白。结果 脑梗死组ε3/4基因型频率明显高于对照组 (P<0 .0 1) ,ε3/3基因型频率明显低于对照组 (P<0 .0 1) ;两脑梗死亚组之间的ε3/4/ε3/3基因型频率虽有上升 /下降趋势 ,但未发现明显的统计学差异 ;FMACI组高密度脂蛋白 (HDL )水平明显低于 NFMACI组 (P<0 .0 5 )。结论 Apo E基因多态性与脑梗死的发生有关 ,ε4等位基因是脑梗死的易感因子 ,ε3等位基因对脑梗死的发生有保护作用 ;Apo E基因多态性和 HDL水平双重作用于家族聚集性脑梗死的发生。 相似文献