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171.
Bernard Guyot Bruno Amduri Bernard Boutevin Andr Sidris 《Macromolecular chemistry and physics.》1995,196(6):1875-1886
The synthesis of the two monomers 2-perfluorooctylethyl α-acetoxyacrylate ( 1 ) and 2-perfluorooctylethyl α-propionyloxyacrylate ( 2 ) was performed in two steps starting from ethyl pyruvate and 2-perfluorooctylethanol with overall yields of about 56% and 50%, respectively. Transesterification of ethyl pyruvate with the adequate fluorinated alcohol followed by enol acylation gave 1 and 2 , respectively. The kinetic study of polymerization of monomers 1 and 2 , led to the determination of the values of the ratio of the square of the rate constant of propagation over the rate constant of termination k2p/kte equal to 9,2 · 10?3 and 9,1 · 10?3 L · mol?1 ·s?1, respectively, and were compared to those of commercially available fluorinated acrylates and methacrylates. 相似文献
172.
Bruno Dallapiccola Giuliana Alimena Viviana Brinchi Giancarlo Isacchi Enrico Gandini 《Cancer Genetics and Cytogenetics》1980,2(4):349-360
Chromosome investigations were carried out in 7 patients with Fanconi's anemia, type Estren-Dameshek. The frequency and types of chromosome instability found in cultured lymphocytes were in accord with those detected in individuals with classical Fanconi's anemia. The break-point distribution indicates a significant excess of breaks in chromosomes No. 1, 2, and 7 and a deficit in No. 18 and X and Y chromosomes. There was a clear clustering of breaks at certain locations in chromosomes No. 1, 2, 3, 7, 9, and 14. The location of the breaks with respect to the bands demonstrated an almost exclusive involvement of the lighter bands, regardless of the banding method used. These results suggest that most breaks take place in the interbands between the G and R bands. In all patients, chromosome instability was less frequent in direct bone marrow preparations than in lymphocyte cultures. However, cultured bone marrow cells showed a significant increase of chromosome aberrations. On the whole, the chromosome data derived from this series of patients are in agreement with those obtained in individuals with classical Fanconi's anemia and give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia. 相似文献
173.
Claude Penit Bruno Lucas Florence Vasseur Theresa Rieker Richard L. Boyd 《Clinical & developmental immunology》1996,5(1):25-36
The development of thymocyte subsets and of the thymic epithelium in SCID and RAG-2-/– mice was monitored after normal bone-marrow-cell transfer. The kinetics of thymic
reconstitution and their relationships with cell proliferation were investigated by using
bromodeoxyuridine to detect DNA-synthesizing cells among lymphoid cells by 3-color
flow cytometry, and in epithelial compartments by staining frozen sections. Thymocytes
started to express CD8 and CD4 10 days after transfer, simultaneously with extensive proliferation.
The first mature CD4+ single-positive cells were generated, from resting CD4+CD8+
cells after day 15. During this day 10–15 period, many epithelial cells positive for cortexspecific
or panepithelial markers were labeled with BrdUrd after pulse-injection. Organized
medullary epithelium also developed after day,15, that is, synchronously with the
appearance of mature thymocytes, but medullary cells were never found BrdUrd+. These
results suggest that, in these models, the reconstitution of the thymic epithelial network
proceeds through expansion of preexisting cortical or undifferentiated cells and by later
maturation (acquisition of specific markers) of medullary cells. This last process is dependent
of the presence of mature thymocytes. 相似文献
174.
175.
Ohne Zusammenfassung 相似文献
176.
In tissue or nerve injury, proinflammatory mediators are released that can modulate a variety of ion channels found in nociceptors. The changes in channel activity, which primarily occurs through changes in intracellular pathways, may lead to the pathological states of hyperalgesia and allodynia. To understand further the regulatory mechanisms underlying the changes in channel activity, we used whole cell patch-clamp recordings from capsaicin-sensitive nociceptive neurons in rat trigeminal ganglion neurons to examine how the cGMP-dependent pathways may regulate ion channel function. Addition of the 8-(4-chlorophenylthio)-3',5' (CPT)-cGMP, a membrane permeant modulator of ion channels, decreased the number of evoked action potentials by 36% and inhibited the tetrodotoxin-resistant (TTX-R) sodium currents and IA potassium currents by 37 and 32%, respectively. Delayed rectifier potassium (IK) currents were unaffected, suggesting that the effects of CPT-cGMP are unlikely to arise from a nonspecific effect on channel activity as a consequence of the adsorption of amphipathic CPT-cGMP molecules to the membrane's bilayer component. This conclusion was reinforced by the lack of changes in gramicidin A channel function in the presence of CTP-cGMP. In summary, the activation of the cGMP-dependent pathways reduces nociceptor excitability, in part, by decreasing the activity of voltage-gated TTX-R sodium channels. This pathway may be a target for efforts to produce selective analgesics. 相似文献
177.
Leopoldo Zelante Lucio Vigliaroli Rita Mingarelli Bruno Dallapiccola 《American journal of medical genetics. Part A》1993,45(4):534-535
We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients may be useful in discussing the prognosis for newly identified cases. © 1993 Wiley-Liss, Inc. 相似文献
178.
179.
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism 总被引:17,自引:0,他引:17
Silvestri L Caputo V Bellacchio E Atorino L Dallapiccola B Valente EM Casari G 《Human molecular genetics》2005,14(22):3477-3492
Parkinson's disease (PD) is a progressive neurodegenerative illness associated with a selective loss of dopaminergic neurons in the nigrostriatal pathway of the brain. Despite the overall rarity of the familial forms of PD, the identification of single genes linked to the disease has yielded crucial insights into possible mechanisms of neurodegeneration. Recently, a putative mitochondrial kinase, PINK1, has been found mutated in an inherited form of parkinsonism. Here, we describe that PINK1 mutations confer different autophosphorylation activity, which is regulated by the C-terminal portion of the protein. We also demonstrate the mitochondrial localization of both wild-type and mutant PINK1 proteins unequivocally and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting. 相似文献
180.
Souriau J Gimenes M Blouin C Benbrik I Benbrik E Churakowskyi A Churakowskyi B 《American journal of medical genetics. Part A》2005,135(3):278-281
Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic features include long palpebral fissures with everted lower lids, prominent ears, skeletal abnormalities, mental retardation, and short stature. An increased incidence of infection has been reported in KS, and a few patients have been noted to have immune defects. However, the frequency and severity of the immune deficiency has not been clearly defined. Immunologic evaluation of 19 consecutive individuals with KS was performed at The Children's Hospital of Philadelphia. Decreased IgA levels were noted in 15/19 individuals (79%), 2 of whom had undetectable levels. Eight patients (42%) also had low total IgG levels. Specific IgG subclass abnormalities were found in 6 of 13 patients evaluated. IgM levels were less frequently decreased. One patient failed to generate anti-tetanus antibodies despite immunization. This study suggests that hypogammaglobulinemia is a frequent finding in children with KS. The pattern of antibody abnormalities seen in children with KS resembles common variable immune deficiency (CVID). Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality. 相似文献