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41.
A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene 总被引:3,自引:0,他引:3
We identified a new common amino acid polymorphism of isoleucine/valine at codon 796 in exon 16 of the gene for human sterol
regulatory element binding protein (SREBP) cleavage-activating protein (SCAP), a central regulator of lipid synthesis and
metabolism in animal cells. It can be detected as an MslI restriction fragment length polymorphism. The allelic frequencies were: isoleucine (A) allele, 0.57 and valine (G) allele,
0.43. This polymorphism may be useful for genetic studies of disorders affecting intracellular lipid metabolism and hyperlipidemia.
Received: August 17, 1999 / Accepted: August 19, 1999 相似文献
42.
43.
丙型肝炎病毒基因分型及其与干扰素治疗应答的关系 总被引:4,自引:0,他引:4
目的为了解山西省丙型肝炎病毒的基因型和基因型对干扰素疗效的预示价值。方法用HCV5’NC区酶切分型方法对94例丙型肝炎病人进行基因分型,并观察其中45例患者对干扰素α1b治疗的应答。结果显示HCVⅠ组(Ⅰ、Ⅱ型)感染80例(851%),HCVⅡ组(Ⅲ、Ⅳ型)感染12例(128%),HCVⅠ/Ⅱ组混合感染2例(21%)。在接受干扰素治疗的病例中,HCVⅠ组感染(35例)的应答率为371%,持续应答率为171%,而Ⅱ组感染(10例)的应答率为80%,持续应答率为60%,两组相比,有显著性差异(P<005,P<0025)。结论表明山西省以HCVⅠ组感染为主,干扰素对HCVⅡ组感染的疗效优于HCVⅠ组感染,HCV基因型有预测干扰素疗效的意义。 相似文献
44.
Characterization of idiotopes on MOPC 315 IgA using monoclonal antiidiotypic antibodies 总被引:1,自引:0,他引:1
Terresa Nusair Reuben Baumal Robert Rosenstein Trond Jørgensen Alexander Marks 《Molecular immunology》1983,20(5):537-547
The isologous antiidiotypic response in BALB/c mice to immunization with the DNP-binding IgA myeloma protein, MOPC 315, alters the expression of the anti-DNP antibody repertoire and confers immunity against MOPC 315 myeloma tumors. In order to characterize the idiotopes on MOPC 315 IgA which elicit this response we have isolated four monoclonal antiidiotypic antibodies (AIA), D10 (IgG2a), A2(IgG1), G3 (IgG2b) and F1 (IgG2a), produced by splenocytes of BALB/c mice immunized with MOPC 315 IgA in three independent fusion experiments. These AIA react with MOPC 315 IgA. reassociated H315 L315 and F315V but not with free H315, L315, V315H or V3152. In addition the AIA do not react with the closely related DNP-binding IgA myeloma protein, MOPC 460, suggesting that they are directed against private idiotopes on MOPC 315 IgA. These idiotopes can be divided into two groups. Group I, defined by D10, A2 and G3 consists of two overlapping idiotopes, one of which is related to the hapten-binding site. The two idiotopes are formed by an interaction of amino acids in H315 and L315. Group II defined by F1 consists of one idiotope which is related to the hapten-binding site. This idiotope is comprised of an aminoacid sequence on H315 which requires an interaction with either L315 or L460 for expression. A2 and G3 react identically with the same idiotope but were derived from two independent fusion experiments. This indicates an identity of AIA clonotypes among individual mice and suggests that the isologous AIA response to MOPC 315 IgA is restricted. 相似文献
45.
Bakary S. Sylla Qing Wang Daniel Hayoz G. Mark Lathrop Gilbert M. Lenoir 《Clinical genetics》1989,36(6):459-462
We have performed, in a large Swiss family, a study of linkage between various DNA markers in the Xq24-27 region and the locus for the X-linked lymphoproliferative syndrome (XLP). Our results indicated that the marker DXS37 in Xq25-q26 is genetically linked to the XLP syndrome. The multipoint linkage analysis showed that the disease locus is distal to DXS11, but proximal to the hypoxanthine phosphoribosyl-transferase gene (HPRT). 相似文献
46.
The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm
Dorothy Ramsbottom Anne O'Neill Donna M. Sexton Rafael A. Gafoor David Bouchier-Hayes David T. Croke 《Clinical genetics》1997,51(4):241-245
Abdominal aortic aneurysm (AAA) is a relatively common disease of the elderly presenting as progressive dilatation of the abdominal aorta. The condition shows a pronounced tendency to cluster in families, indicating a genetic component in the disease aetiology. We have screened the cholesteryl ester transfer protein (CETP) gene, which has been proposed as a candidate gene in AAA, by means of SSCP, DNA sequencing and restriction analysis in a cohort of patients with AAA and a matching control group drawn from the Irish population. The analysis has demonstrated sequence variation at four sites in the CETP gene: an A-T transversion in exon 9 (producing a Lys309-Stop codon substitution), a G-A transition in exon 14 (producing a conservative Va1421-Ile substitution), a C-T transition in intron 12 and a G-A transition in intron 15. None of the last three sites corresponded with sites of functional significance in the protein, suggesting that this reflects neutral polymorphism at the CETP locus. Furthermore, the frequencies of these four polymorphisms in the AAA patient and control groups were not significantly different. These data therefore suggest that CETP may be excluded as a candidate gene in abdominal aortic aneurysm. 相似文献
47.
Ross IL Willmore R Heuzenroeder MW 《International journal of medical microbiology : IJMM》2003,293(5):371-375
Fluorescent amplified fragment length polymorphism (FAFLP) analysis was performed on 68 isolates of Salmonella enterica subsp. salamae serovar Sofia (S. Sofia). Fifty eight isolates were obtained over a period of approximately 15 years from a range of human, chicken industry and environmental sources throughout Australia. A further ten isolates were identified from human and poultry sources in Israel from 1972 to 1987. Analysis of FAFLP profiles for fragments between 50 to 500 base pairs in length indicated distinct clusters of isolates. All but seven isolates clustered into four groups of >90% similarity and all isolates displayed at least 70% similarity with each other. No cluster could be attributed to a particular geographical, temporal or source-of-isolation origin. It is concluded that S. Sofia is genetically variable with certain clones persisting over time but no group appears unique to Australia. 相似文献
48.
Summary Restriction fragment analysis was conducted to investigate the mode of inheritance of mitochondrial (mt) DNA in F1 progeny of two P. deltoides x P. deltoides, three P. deltoides x P. nigra, and two P. deltoides x P. maximowiczii controlled crosses, and in Populus x canadensis by using 16 restriction endonucleases and two heterologous probes of cloned mtDNA fragments of maize. Five restriction fragment length polymorphisms (RFLPs) of mtDNA differentiated P. deltoides from P. nigra, whereas three RFLPs of mtDNA separated P. deltoides from P. maximowiczii. In all cases, F1 progeny of P. deltoides x P. nigra, and P. deltoides x P. maximowiczii, crosses had mtDNA restriction fragments of only their maternal P. deltoides parents. P. x canadensis had mtDNA restriction fragments of only P. deltoides. F1 progeny of intraspecific P. deltoides crosses also had the same mtDNA fragments as their maternal parent. The results clearly demonstrate uniparental-maternal inheritance of the mitochondrial genome in F1 interspecific hybrids of P. deltoides with P. nigra and P. maximowiczii. 相似文献
49.
目的:为了解广西壮族人群D1S80位点群体遗传资料,方法,使用扩增片段长度多态性(Amp-Flp)和PCR结合聚丙烯酰胺凝电脉及银染技术,对300名文本地区壮族无关个体D1S80位点多态性分析,结果,观察到23个等位基因,74个基因型,杂合度,非交排除率,个体识别力及多态信息含量分别为0.824,0.763,0.968,0.875,其基因频率分布符合Hardy-weinberg定律,对5个家系相关个体分析符合孟德尔定律,结认,该方法具有快速,简便,特异性强,灵敏度高特点。 相似文献
50.
HLA—DPB1等位基因与重症肌无力相关性研究 总被引:3,自引:0,他引:3
①目的 探讨人类白细胞抗原 (HLA DPB1)在重症肌无力 (MG)发病中的作用。②方法 采用聚合酶链反应限制性长度多态性 (PCR RFLP)技术 ,对 34例MG病人及 5 1例健康人HLA DP对应的HLA DPB1基因进行分型 ,并对其DPB1的各等位基因的频率进行比较分析。③结果 HLA DPB1 0 5 0 1与MG有一定关系 (χ2 =9.81,P <0 .0 5 )。④结论 HLA DPB1座位在MG发病过程中具有重要作用 相似文献