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51.
Linda Wittkop Daniel Commenges Isabelle Pellegrin Dominique Breilh Didier Neau Denis Lacoste Jean-Luc Pellegrin Geneviève Chêne François Dabis Rodolphe Thiébaut 《BMC medical research methodology》2008,8(1):68
Background
Principal component analysis (PCA) and partial least square (PLS) regression may be useful to summarize the HIV genotypic information. Without pre-selection each mutation presented in at least one patient is considered with a different weight. We compared these two strategies with the construction of a usual genotypic score. 相似文献52.
Anne Marie-Cardine Isabelle Maridonneau-Parini Siegmund Fischer 《European journal of immunology》1994,24(6):1255-1261
Relationships between CD45 and p56Ick have been suggested by co-immunoprecipitation of both proteins and by dephosphorylation of the p56lck regulatory site, Tyr 505, by CD45 in vitro. We investigated whether the kinase activity of p56lck is modulated in T cells triggered via CD45. We showed that incubation of Jurkat cells with a combination of two anti-CD45 monoclonal antibodies (mAb) (MC5/2 + D3/9) induced an increase in p56lck kinase activity, while a single mAb did not. Under these conditions, p56lck underwent two consecutive waves of activation. This was accompanied by internalization of the kinase and by a time-dependent increased accessibility of CD45 phosphatase at the plasma membrane. Similarly, activation and internalization of p56lck were observed using a combination of anti-CD45 (MC5/2) and anti-CD2(T112) mAb, suggesting that a functional complex consisting of CD45, CD2 and p56lck was formed upon cell triggering. Taken together, these results suggests that: (i) CD45 participates in the regulation of p56lck kinase activity in vivo and that (ii) CD45 could play a mediator role in the stimulation and endocytosis of p56lck through the CD2 pathway. 相似文献
53.
A PCR assay targeting the tpi gene was developed to detect and to genotype Giardia lamblia in human feces. Our assay was specific and discriminated between G. lamblia assemblages A and B. G. lamblia cysts isolated from human feces were also analyzed with two previously described PCR-restriction fragment length polymorphism (RFLP) assays, which are based on the detection of tpi or gdh genes. These RFLP analyses distinguished groups I and II within assemblage A or groups III and IV within assemblage B. Among 26 fecal samples from patients with sporadic giardiasis diagnosed by hospital laboratories, the tpi gene was amplified from 25 (96%) with our PCR assay, whereas only 21 (81%) samples were positive when the gdh gene was targeted. Of the 25 positive samples, nine (36%) contained assemblage A and 16 (64%) contained assemblage B. Thus, RFLP analysis classified eight samples (32%) in assemblage A group II, eight (32%) in assemblage B group III, and five (20%) in assemblage B group IV. The group could not be specified for four samples. The tpi and gdh genes of G. lamblia assemblage B were amplified from 14 (93%) of 15 samples collected only from French soldiers coming back from the Ivory Coast. All of these contained assemblage B group III. The PCR method developed is sensitive, simple, and specific and shows that the tpi gene is well adapted for G. lamblia genotyping. 相似文献
54.
Mourra N de Chaisemartin C Goubin-Versini I Parc R Flejou JF 《Archives of pathology & laboratory medicine》2005,129(3):403-406
Malignant deciduoid mesothelioma, a rare phenotype of epithelioid mesothelioma, arises more commonly from the peritoneum of young women, but it is also reported in the pleura of elderly people. We report a case of malignant deciduoid mesothelioma that occurred in a 41-year-old woman after cesarean section and was initially misdiagnosed as pseudotumoral deciduosis. Microscopically, the tumor was entirely composed of deciduoid areas, and only scattered tumor cells were positive for calretinin and keratin 5/6. The patient died 14 months after the first operation. This observation confirms the poor prognosis of this entity and the importance of the differential diagnosis of pseudotumoral deciduosis. 相似文献
55.
Philippe Hup Cline Rouveirol Isabel Brito Pierre Neuvial Philippe La Rosa Eric Viara Nicolas Stransky Gaëlle Pierron Elodie Mani Caroline Brennetot Isabelle Jannoueix Nadge Gruel Alain Aurias Olivier Delattre Franois Radvanyi Emmanuel Barillot 《European journal of medical genetics》2005,48(4):467-468
56.
Giulia Barcia Marlne Rio Zahra Assouline Coralie Zangarelli Charles-Joris Roux Pascale de Lonlay Julie Steffann Isabelle Desguerre Arnold Munnich Jean-Paul Bonnefont Nathalie Boddaert Agns Rtig Metodi D. Metodiev Benedetta Ruzzenente 《European journal of human genetics : EJHG》2021,29(3):533
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations. Compound heterozygous or homozygous missense and frameshift variants in the FARS2 gene, that encodes the mitochondrial phenylalanyl-tRNA synthetase, are commonly linked to either early-onset epileptic mitochondrial encephalopathy or spastic paraplegia. Here, we expand the genetic spectrum of FARS2-linked disease with three patients carrying novel compound heterozygous variants in the FARS2 gene and presenting with spastic tetraparesis, axial hypotonia and myoclonic epilepsy in two cases.Subject terms: Metabolic disorders, Mutation 相似文献
57.
Estrogen effects on object memory and cholinergic receptors in young and old female mice. 总被引:5,自引:0,他引:5
Elvire Vaucher Isabelle Reymond Robert Najaffe Satyabrata Kar Rémi Quirion Marilyn M Miller Keith B J Franklin 《Neurobiology of aging》2002,23(1):87-95
We investigated whether object recognition memory is modulated by estrogen in young (5 month) and aged (24 month) female C57Bl/6J mice, and if cholinergic muscarinic receptors might contribute to this response. Mice that were ovariectomized, or ovariectomized plus estradiol-treated three weeks before behavioral testing or quantitative autoradiography were compared to intact mice. Memory for a previously encountered object deteriorated significantly between 3 and 6h after initial exposure, regardless of animal age. In both young and aged mice, estradiol-treated mice showed significantly greater recall than did ovariectomized mice. In both age groups, the apparent number of [(3)H]pirenzepine/M(1)-like and [(3)H]AFDX384/M(2)-like muscarinic receptor binding sites was reduced in the basal forebrain as well as its projection areas following ovariectomy, but this decrease was not alleviated by estrogen. Aging poorly affected object memory, but reduced muscarinic binding in some cortical subregions and in the caudate nucleus. These findings suggest that estrogen effects on memory in C57Bl/6J mice are not due to changes in the number of muscarinic receptors. 相似文献
58.
Stéphanie Chasseigneaux Stéphane Haïk Isabelle Laffont-Proust Olivier De Marco Martine Lenne Jean-Philippe Brandel Jean-Jacques Hauw Jean-Louis Laplanche Katell Peoc’h 《Neuroscience letters》2006
A valine to isoleucine mutation at residue 180 was identified in a French patient with Creutzfeldt-Jakob disease (CJD). The mutation is located in the close vicinity of one of the two N-glycosylation sites of the cellular prion protein (PrPC). Western blot analysis revealed accumulation in the brain of the pathogenic proteinase K-resistant PrP (PrPSc) isoform with the notable absence of the diglycosylated band. The mutant protein expressed in CHO cells was correctly glycosylated, suggesting that the atypical glycosylation pattern of PrPSc was not due to the mutation at position 180. These results suggest that the diglycosylated form of the mutant PrP180I prevents its conversion into the pathogenic mutant form PrPSc180I, supporting a central role of N-linked glycan chains in the PrP conversion process. 相似文献
59.
Nguyen Khac F Waill MC Romana SP Radford-Weiss I Busson M Collonge-Rame MA Ribadeau-Dumas A Piffaut MC Daniel MT Davi F Merle-Béral H Berger R Arock M 《Cancer Genetics and Cytogenetics》2002,138(1):22-26
Two patients with Ph-positive chronic myelocytic leukemia in erythroblastic transformation and rearrangement of the short arm of chromosome 18 are reported. Fluorescence in situ hybridization studies showed that the 18p rearrangement resulted from translocation of the main part of chromosome 22 long arm to 18p, including BCR-ABL1 fusion. The 18p abnormality resulted, thus, in loss of 18p and duplication of BCR-ABL1 in both patients. The possible relation to the erythroblastic type of blastic phase is briefly discussed. In addition an apparently intact germline ABL1 gene was duplicated and inserted into chromosome 6 at band p21 in one of these patients. 相似文献
60.