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51.
Donna M. Ballantine Shelley A. Klemm Terry J. Tunny Michael Stowasser Richard D. Gordon 《Clinical and experimental pharmacology & physiology》1994,21(3):215-218
1. Aldosterone levels in patients with unilateral aldosterone-producing adenomas may be responsive or unresponsive to the renin-angiotensin system, with the former often previously misdiagnosed as bilateral adrenal hyperplasia. 2. In tumours from patients in the responsive subgroup, renin mRNA is expressed in greater amounts than in tumours from patients in the unresponsive subgroup, or in normal adrenals. 3. We compared the frequency of four renin gene polymorphisms in peripheral blood DNA from the two subgroups and found significant associations between BglI, TaqI and HinfI restriction fragment length polymorphisms (RFLP) and aldosterone responsiveness. 4. Allelic variation in the constitutive renin gene was associated with a specific cause of hypertension. 相似文献
52.
Enza-Maria Valente Anjum Misbahuddin Francesco Brancati Mark R Placzek Barbara Garavaglia Sergio Salvi Andrea Nemeth Charles Shaw-Smith Nardo Nardocci Anna-Rita Bentivoglio Alfredo Berardelli Roberto Eleopra Bruno Dallapiccola Thomas T Warner 《Movement disorders》2003,18(9):1047-1051
The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases. 相似文献
53.
In a cohort of 3383 men aged 53 to 74 in the Copenhagen Male Study we investigated the association between ischaemic heart disease (IHD) and the Lewis blood group, assigned to chromosome 19. Among men with the Le(a-b-) phenotype, 8% had a history of non-fatal myocardial infarction, among others the frequency was 4%. The corresponding odds ratio was (95% confidence interval: CI) 1.9 (1.2-3.0) P < 0.01, men with Le(a-b-) had a risk-factor profile and pattern of disease resembling that of Reaven's syndrome X. In a subsequent prospective study 343 men with arteriosclerotic stigmas were excluded. The men had their morbidity and mortality recorded over the next 4 years. One-hundred-and-one men suffered IHD; 26 dying from IHD. In total 162 men died. Men with Le(a-b-) had an increased risk of death from IHD compared with others. Adjusted for age, relative risk (RR) (95% CI) was: 4.4 (1.9-10.3), P < 0.001, and for all causes of mortality: RR = 1.6 (1.0-2.6), P < 0.05. Men with the Le(a-b-) phenotype had an increased risk of an IHD event compared to men with other phenotypes (RR = 1.6 (0.9-2.8), P = 0.10) and a significantly higher IHD case fatality rate (RR = 2.8 (1.5-5.2), P = 0.01). The finding that the Le(a-b-) phenotype is a genetic marker of IHD risk may have implications in terms of prevention. The Le(a-b-) phenotype may also contribute to providing an explanation for the substantial ethnic differences found in the incidence of IHD. The similar risk-factor profile and pattern of disease found between Le(a-b-) men and individuals with Reaven's syndrome X is hypothesized to be due to a close genetic relationship on chromosome 19. 相似文献
54.
目的:研究中国汉族群体中α艾杜糖苷酶基因D4S111位点的遗传多态性。方法:采用扩增片段长度多态性(AmpFLP)分析技术,检测了广州地区汉族无血缘关系健康个体97名。结果:D4S111位点,在97名无关个体中发现5个等位基因和9种基因型,等位基因片段长度为830~510bp,基因频率为00052~03608,PIC为05966,杂合性为078。结论:中国汉族群体中D4S111位点具有高度多态性,并与其它种族间存在差异性。 相似文献
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根除幽门螺杆菌疗效与细胞色素氧化酶P450 2C19基因多态性的关系 总被引:3,自引:0,他引:3
目的 比较雷贝拉唑与奥美拉唑三联疗法根除幽门螺杆菌(Hp)的疗效与细胞色素氧化酶P4502 C19(CYP 2C19)基因多态性的关系。方法 采用随机、对照研究方法,将169例因消化不良症状接受常规胃镜检查确诊为慢性胃炎且Hp阳性的连续患者分人两组:雷贝拉唑三联疗法组(RAC组85例)和奥美拉唑三联疗法组(OAC组84例)。Hp诊断依靠组织病理学检查并参考快速尿素酶试验、血清Hp抗体检测结果。RAC组、OAC组均给予三联治疗:RAC组:雷贝拉唑10mg,OAC组:奥美拉唑20mg,两组均联用羟氨苄青霉素1000mg和克拉霉素500mg,全部药物每日2次,疗程7d。采用聚合酶链式反应结合限制性内切酶技术(PCR-RFLP),进行CYP 2C19基因型分析,治疗结束后第28天用^14C尿素呼气实验检测Hp根除疗效。结果 160例完成治疗方案,RAC组及OAC组的Hp根除率按PP分析及ITT分析均无统计学差异(P〉0.05)。根据CYP 2C19基因型分析,160例中,弱代谢型(PM)、中间代谢型(IM)及强代谢型(EM)的Hp根除率分别为95.5%(21/22)、85.9%(73/85)和67.9%(36/53)。PM型及IM型的Hp根除率均显著高于EM型(P〈0.05),而PM型与IM型间差异无统计学意义(P〉0.05)。RAC组中,各基因型的Hp根除率差异无统计学意义(P〉0.05)。OAC组中。IM型与EM型间(P〈0.01)及EM型与PM型间(P〈0.05)差异均有统计学意义。结论 雷贝拉唑与奥美拉唑两种三联疗法均能有效根除Hp。总疗效差异无统计学意义。雷贝拉唑三联疗法疗效较稳定,个体间差异小。PM型及IM型的Hp根除率均较EM型为高。 相似文献
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Schizophrenia is a complex mental disorder affecting approximately 1% of the general population worldwide.1 It has a high incidence in the general population, a poor prognosis and a poor outcome, in that it has become a major social problem. Family, twin, and adoption studies have clearly shown that a genetic component is quite likely to play an important role in determining susceptibility to schizophrenia. The genome-wide scan indicates that several chromosomal regions are linked to schizophrenia, some of which have been replicated independently including 6p21-24, 8p21-22, 13q14-33 and 22q11-12.2,3 This study was designed to detect two single nucleotide polymorphisms (SNPs) located in the 13q14-33 region, rs188608 at the STK24 locus and rs2892679 at the GPC6 locus, among Chinese population. 相似文献
60.