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11.
The efficacy and outcome of bone marrow transplantation therapy following lethal irradiation were examined in syngeneic mice that had a hereditary macrocytic anemia (an/an) or were genotypically normal (+/+). Successful RBC and WBC replacement, based on blood cell parameters and donor genetic markers, were observed in all combinations of transplant therapy. Nevertheless, the an/an mice died prematurely several months after treatment, whether they received +/+ or an/an marrow cells. In contrast, the +/+ recipients of either +/+ or an/an marrow cells survived for at least 1 year after transplantation. Premature death of the an/an mice was associated with lymphopenia, anemia, kidney lesions, and severe pathogen-free pneumonitis. On the basis of our results, we hypothesize that the premature deaths of an/an mice are caused by a kind of chronic irradiation damage to which an/an mice are especially susceptible. 相似文献
12.
Ward HJ 《Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin》2000,5(9):90-94
By the end of May 2000, 54 definite cases and 13 probable cases of vCJD had been notified in the United Kingdom by the National CJD Surveillance Unit set up in 1990. All definite cases for whom data are available are methionine homozygous at codon 129 of 相似文献
13.
Vernica Calonga‐Solís Leonardo M. Amorim Ticiana D. J. Farias Maria Luiza Petzl‐Erler Danielle Malheiros Danillo G. Augusto 《Immunology》2021,162(1):58-67
Pemphigus foliaceus (PF) is an autoimmune blistering skin disease characterized by the presence of pathogenic autoantibodies against desmoglein 1, a component of intercellular desmosome junctions. PF occurs sporadically across the globe and is endemic in some Brazilian regions. Because PF is a B‐cell‐mediated disease, we aimed to study the impact of variants within genes encoding molecules involved in the different steps of B‐cell development and antibody production on the susceptibility of endemic PF. We analysed 3,336 single nucleotide polymorphisms (SNPs) from 167 candidate genes genotyped with Illumina microarray in a cohort of 227 PF patients and 193 controls. After quality control and exclusion of non‐informative and redundant SNPs, 607 variants in 149 genes remained in the logistic regression analysis, in which sex and ancestry were included as covariates. Our results revealed 10 SNPs within or nearby 11 genes that were associated with susceptibility to endemic PF (OR >1.56; p < 0.005): rs6657275*G (TGFB2); rs1818545*A (RAG1/RAG2/IFTAP);rs10781530*A (PAXX), rs10870140*G and rs10781522*A (TRAF2); rs535068*A (TNFRSF1B); rs324011*A (STAT6);rs6432018*C (YWHAQ); rs17149161*C (YWHAG); and rs2070729*C (IRF1). Interestingly, these SNPs have been previously associated with differential gene expression, mostly in peripheral blood, in publicly available databases. For the first time, we show that polymorphisms in genes involved in B‐cell development and antibody production confer differential susceptibility to endemic PF, and therefore are candidates for possible functional studies to understand immunoglobulin gene rearrangement and its impact on diseases. 相似文献
14.
E. Rocha Amazonas de Almeida M. L. Petzl‐Erler 《International journal of immunogenetics》2013,40(3):178-185
Several single nucleotide polymorphisms (SNPs) have been associated with susceptibility to autoimmune diseases, but the mechanisms responsible for the associations are poorly understood. To test the hypothesis that the variation of the basal levels of the gene products is significantly influenced by genetic polymorphism, we investigated whether SNPs in genes CD40, CD28, CTLA4, CD80, CD86, BAFF and IL6 are affecting mRNA or protein expression. The surface expression of the proteins on unstimulated monocytes, B cells, NK cells, CD4+ T cells and CD8+ T cells, as well as the mRNA levels in peripheral blood mononuclear cells (PBMC) was compared among healthy volunteers with different genotypes. Despite the low basal expression level and large interindividual variation, average BAFF expression was significantly higher in carriers of genotype C/C of the BAFF‐871C>T SNP (rs9514828) when compared with carriers of the C/T and T/T genotypes. Genotype C/C carriers presented higher levels of the protein on CD8+ T cells, monocytes and NK cells and of mRNA in PBMC. Moreover, carriers of T allele of CTLA4‐318C>T (rs5742909) showed a significantly increased expression of CTLA‐4 on CD8+ T cells. No significant variation among genotypes was found in the protein or mRNA levels of other investigated genes. 相似文献
15.
Thijmen Visseren Gwenny Manel Fuhler Nicole Stephanie Erler Yoena Roos Anna Nossent Herold Johnny Metselaar Jan Nicolaas Maria IJzermans Sarwa Darwish Murad Maikel Petrus Peppelenbosch 《Transplant international》2020,33(11):1424-1436
Primary sclerosing cholangitis (PSC) is a common indication for liver transplantation (LT). Up to 25% of patients experience recurrence of PSC (rPSC) after LT, which is associated with significant morbidity and mortality. To date, it is not possible to predict which patients are at risk for rPSC. The aetiology of PSC is complex and is speculated to involve translocation of intestinal bacteria to the liver, because of its frequent co-occurrence with inflammatory bowel diseases (IBD). Here, we investigate whether the mucosal intestinal microbiome of PSC patients (n = 97) at time of first LT can identify those patients who will develop rPSC. 16S gene sequencing of bacterial DNA isolated from formalin-fixed paraffin-embedded biopsies showed that PSC patients with Crohn’s disease (n = 15) have a reduced microbial diversity and that inflammation of the mucosa is associated with beta-diversity changes and feature differences. No differences in alpha- or beta diversity were observed between patients with rPSC (n = 14) and without rPSC (n = 83). However, many over-represented bacterial features were detected in patients with rPSC, while surprisingly, those without recurrence of disease were characterized by an increased presence of the Gammaproteobacteria Shigella. This pilot study warrants further investigation into bacterial differences between rPSC and non-rPSC patients. 相似文献
16.
17.
The cytoskeleton in Chediak-Higashi syndrome fibroblasts 总被引:2,自引:0,他引:2
The Chediak-Higashi syndrome (CHS) trait is expressed in cultured human skin fibroblasts as an abnormal perinuclear concentration of moderately enlarged lysosomes. The cytoskeleton of CHS fibroblasts appears intact. Microtubules are normal in number and morphology, as assessed by colchicine binding studies, antitubulin immunofluorescence, and electron microscopy. Deformability by shear force is unaltered and microfilaments are abundant. However, CHS lysosomes appear to interact abnormally with the cytoskeleton, since the perinculear aggregation partially disperses after depolymerization of cell microtubules with colchicine. These results suggest that CHS is associated with a defect of either the lysosomal membrane itself or of lysosomal membrane- microtubule interaction. 相似文献
18.
19.
20.
The ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testosterone, luteinizing hormone and oestrogen 总被引:19,自引:2,他引:19
Manning JT; Scutt D; Wilson J; Lewis-Jones DI 《Human reproduction (Oxford, England)》1998,13(11):3000-3004
The differentiation of the urinogenital system and the appendicular
skeleton in vertebrates is under the control of Hox genes. The common
control of digit and gonad differentiation raises the possibility that
patterns of digit formation may relate to spermatogenesis and hormonal
concentrations. This work was concerned with the ratio between the length
of the 2nd and 4th digit (2D:4D) in humans. We showed that (i) 2D:4D in
right and left hands has a sexually dimorphic pattern; in males mean 2D:4D
= 0.98, i.e. the 4th digit tended to be longer than the 2nd and in females
mean 2D:4D = 1.00, i.e. the 2nd and 4th digits tended to be of equal
length. The dimorphism is present from at least age 2 years and 2D:4D is
probably established in utero; (ii) high 2D:4D ratio in right hands was
associated with germ cell failure in men (P = 0.04); (iii) sperm number was
negatively related to 2D:4D in the right hand (P = 0.004); (iv) in men
testosterone concentrations were negatively related to right hand 2D:4D and
in women and men LH (right hand), oestrogen (right and left hands) and
prolactin (right hand) concentrations were positively correlated with 2D:4D
ratio and (v) 2D:4D ratio in right hands remained positively related to
luteinizing hormone and oestrogen after controlling for sex, age, height
and weight.
相似文献