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91.
Identification of a novel protein interacting with RPGR 总被引:1,自引:0,他引:1
A novel protein, called RPGRIP, has been identified as interacting with the RPGR protein, which is mutated in a severe form of human retinal degeneration, X-linked retinitis pigmentosa (RP3 type). The bovine RPGRIP was identified initially by screening for RPGR-interacting proteins with a bovine retina cDNA library using the yeast two-hybrid system. The specificity of the interaction was confirmed by co-immunoprecipitation of in vitro translated protein and using RPGR mutants. The human RPGRIP gene was isolated and shown to be expressed in retina and testis. Human RPGRIP spans a genomic interval of 34 kb, and consists of 15 exons, some of which are alternatively spliced. It was mapped using monochromosomal and radiation hybrid cell lines to chromosomal region 14q11. The function of RPGRIP is unknown; it shows no homology to proteins of known function, although it is predicted to form two coiled-coil domains at the N-terminus. RPGRIP is a strong candidate gene for causing human retinal degeneration. 相似文献
92.
The "at birth" system which is used in Sheffield to identify children likely to die unexpectedly in infancy, was tested retrospectively in Birmingham (83 cases) and in Newcastle upon Tyne (56 cases). The discrimination between cases and age-matched controls was poor in both cities. Analysis of the 8 factors used in the system showed that only 2 maintained significant case/control differences in Birmingham and Newcastle. Further investigation showed that other factors from maternity records showed significant case/control differences in these cities. Although the system used in Sheffield would not be of use in a prospective prevention programme in either Newcastle or Birmingham, the possibility of evolving an "at risk" system which might apply more widely is discussed. 相似文献
93.
Genital tract morphology in 14-month old female rats exposed prenatally to diethylstilbestrol (DES) was analyzed as part of an examination of the effects of transplacental exposure to DES on estrogen sensitive tissues. Pregnant Sprague-Dawley rats were injected with sesame oil alone or with DES in sesame oil on days 10 and 13 of gestation (total dose 1.2 micrograms DES) or on days 15 and 18 (total dose 1.2 micrograms or 120 micrograms DES). Female offspring (9-15 per group) were sacrificed at 14 months of age. Effects of DES exposure varied with the dose given and with the stage of differentiation of the fetal tissues. In the ovaries of rats exposed to 120 micrograms of DES on days 15 and 18 of gestation, follicular elements were reduced and replaced by dense sheets of stromal cells; oophoritis was noted in five of nine rats. Hypercellularity of oviductal stroma was another common feature, as was suppurative salpingitis. Ovaries of rats exposed to 1.2 micrograms DES on days 10 and 13 of gestation were more likely to contain numerous corpora lutea than the other DES-exposed groups of controls. An increased incidence of benign uterine abnormalities was observed in DES-exposed offspring, including squamous metaplasia and suppurative endometritis. In the cervices of all nine rats exposed to 120 micrograms DES on days 15 and 18 of gestation, the epithelial surface showed a convoluted pattern, lined by stratified squamous and stratified cuboidal cells. Thus, prenatal exposure to DES, especially at the higher dose used, has long-term consequences on reproductive tract morphology in Sprague-Dawley rats. 相似文献
94.
G. F. A. Harding C. Boylan R. A. Clement 《Documenta ophthalmologica. Advances in ophthalmology》1986,62(1):81-88
Albinism is a congenital condition in which hypopigmentation occurs. In addition to this abnormality there is a misrouting of the optic nerve fibers, with some fibers from the temporal retina following a crossed route at the chiasma and terminating in the contralateral cortical hemisphere. This contralateral preponderance of fibers from each eye should be recognizable from recording the visual evoked cortical potential over each hemisphere on monocular stimulation. Such a technique should produce evidence of responses of either increased amplitude or shorter latency over the contralateral hemisphere. Twenty-five human albinos (twenty-three oculocutaneous, two ocular) have been examined. Pattern appearance-disappearance visual evoked cortical potentials were used, but only on bioccipital derivations did these show clear lateralization. With the flash response the P2 component has a consistently shorter latency over the contralateral hemisphere to the eye stimulated.The visual evoked subcortical potential shows contrasting lateralization. The implications of these findings are discussed. 相似文献
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Oliver Boylan Terry Bradley Agnes McKnight 《The British journal of general practice》2005,55(516):544-545
GPs' perceptions of the tension between the professional development and revalidation aspects of the current GP appraisal scheme were analysed. Evidence was gathered from focus groups representing general practice in Northern Ireland. The results indicate that there is support for the professional development aspects of appraisal but the link with revalidation is problematic, thereby potentially undermining GP support for the scheme. Greater clarity about the precise nature of the linkage is required to avoid a process that fails to fully satisfy the requirements of either appraisal or revalidation. 相似文献
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目的探讨医源性脾脏损伤脾切除对结直肠癌切除患者术后长期生存的影响。方法对1990年1月1日至1999年12月31日10年间行结直肠癌手术切除并附带脾切除患者进行病例配对回顾研究。分析患者年龄、性别、依据美国麻醉学医师协会(ASA)标准评估的身体状况、疾病分期、手术类型及预后等资料。配对病例来自同一医疗中心,性别、年龄、疾病分期及手术类型完全相同。手术附带脾切除患者为试验组,未切脾者为对照组。结果55例患者行医源性脾切除术,对照组在年龄、性别、身体状况、疾病分期及手术类型上与之匹配。随访时间(从手术开始到患者死亡或者最后一次随访1为2~205个月(中位随访时间为43个月)。Cox比例危险度模型进行Kaplan-Meier法生存分析发现两组间差异有显著性意义,不切除脾脏对患者生存有利(危险度1.8,95%可信区间为1-3.3,P=0.0399),未切脾组与切脾组5年生存率分别为70%和47%,10年生存率分别为55%和38%。结论结直肠癌患者在行结肠或直肠切除时,因医源性脾脏损伤而切除脾脏者,预后较差。 相似文献