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1.
Annals of Nuclear Medicine - Cardiac amyloidosis is a rare disease characterized by amyloid heart deposits and is usually a part of systemic amyloidosis, in relation to systemic light chain (AL)... 相似文献
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Three-dimensional reconstruction in routine computerized tomography of the skull and spine. Experience based on 161 cases. 总被引:1,自引:0,他引:1
L Bonnier K Ayadi A Vasdev G Crouzet B Raphael 《Journal of neuroradiology. Journal de neuroradiologie》1991,18(3):250-266
Three-dimensional (3D) reconstruction in routine computerized tomography (CT) presupposes that the referring clinicians are motivated, software programs are of good quality, a second working console is available and manipulations are made by experienced persons. Maxillofacial surgery is the main, conventional indication, but the method is also used to plan the surgical treatment of craniofacial malformations and that of injuries and tumours. 3D reconstruction cannot replace a thorough analysis of the acquisition sections since its spatial definition is not as good as theirs. Without competing with pure research-work, a number of applications remain in the realm of speculative imaging, but it cannot be denied that 3D reconstruction has an interesting potential for teaching. 相似文献
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Pashov A Kenderov A Kyurkchiev S Kehayov I Hristova S Lacroix-Desmazes S Giltiay N Varamballi S Kazatchkine MD Kaveri SV 《International immunology》2002,14(5):453-461
The present study demonstrates the presence of natural autoantibodies of the IgG isotype directed against heat shock protein 90 (HSP90). The binding properties of affinity-purified anti-HSP antibodies were compared with those of natural antibodies specific for other self antigens, including anti-thyroglobulin and anti-myoglobin autoantibodies, by using semiquantitative immunoblotting, with solubilized proteins from normal liver tissue as antigens, and cross-blot analysis using purified self proteins. Affinity-purified anti-HSP90 antibodies were polyreactive and the non-HSP90-specific fraction of normal IgG was depleted in its natural autoantibody content. We further observed that self antigens including HSP, myosin, tubulin and aldolase with highly conserved structures show similar patterns of binding with natural antibodies, and form a well-defined cluster as demonstrated by cluster analysis of immunoreactivity data, whereas the less-conserved self and non-self antigens remained unclustered. The results favor the hypothesis that HSP90 belongs to a subset of highly conserved and immunodominant self antigens that are the primary target for natural autoantibodies in normal human IgG. 相似文献
6.
de Jong BC Onipede A Pym AS Gagneux S Aga RS DeRiemer K Small PM 《Journal of clinical microbiology》2005,43(7):3530-3532
Mycobacterium bovis is best identified by screening those isolates of the Mycobacterium tuberculosis complex that have any pyrazinamide (PZA) resistance, using a confirmatory test such as spoligotyping, biochemical testing, or genomic deletion analysis. The sensitivity for detection of M. bovis is lowered to 82% when only PZA-monoresistant isolates are screened. 相似文献
7.
Daphné Lehalle Roberto Colombo Michael O'Grady Bénédicte Héron Nada Houcinat Paul Kuentz Sebastien Moutton Arthur Sorlin Julien Thevenon Julian Delanne Sebastien Gay Caroline Racine Aurore Garde Frédéric Tran Mau‐Them Christophe Philippe Antonio Vitobello Sophie Nambot Frédéric Huet Yannis Duffourd François Feillet Christel Thauvin‐Robinet Sandrine Marlin Laurence Faivre 《American journal of medical genetics. Part A》2019,179(9):1756-1763
Alpha‐mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi‐systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha‐mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha‐mannosidase in leucocytes and screening for abnormal urinary excretion of mannose‐rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations. Enzyme replacement therapy (LAMZEDER) was approved for use in Europe in August 2018. Here, we describe seven individuals from four families, diagnosed at 3–23 years of age, and who were referred to a clinical geneticist for etiologic exploration of syndromic hearing loss, associated with moderate learning disabilities. Exome sequencing had been used to establish the molecular diagnosis in five cases, including a two‐sibling pair. In the remaining two patients, the diagnosis was obtained with screening of urinary oligosaccharides excretion and the association of deafness and hypotonia. These observations emphasize that the clinical diagnosis of AM can be challenging, and that it is likely an underdiagnosed rare cause of syndromic hearing loss. Exome sequencing can contribute significantly to the early diagnosis of these nonspecific mild phenotypes, with advantages for treatment and management. 相似文献
8.
The RGD1 gene from Saccharomyces cerevisiae, which encodes a GTPase-activating protein for the Rho3 and Rho4 small G proteins, exhibits synthetic lethality with the VRP1 and LAS17 genes. Their products are proline-rich proteins that interact with both actin and myosins to ensure polarized growth. By testing functional links, we found that the VRP1 and LAS17 genes are potent suppressors of the rho3Delta mutation. In particular, they restore the polarization of actin patches in rho3Delta cells. Moreover, the vrp1Delta and las17Delta mutations were found to display a similar pattern of genetic interactions with specific actin-linked genes. These mutations also increase the sensitivity to activated forms of both Rho3p and Rho4p. These data support our working model, in which the VRP1 and LAS17 genes define a cellular complex that works in concert with the RHO3-RHO4 signaling pathway in yeast polarized growth. In addition, other observations lead us to propose that Rvs167p may act as a linking protein between the two cellular elements. 相似文献
9.
C. Crouzet H. Fournier X. Papon N. Hentati P. Cronier Ph. Mercier 《Surgical and radiologic anatomy : SRA》1998,20(4):273-278
Summary The findings from 12 dissections of previously injected facial masks, 8 dissections of the face following intrarterial injection of a red solution of Latex Neoprene, and a corrosion cast specimen allowed us to study the arterial supply of the lips. The arterial supply of the upper lip arises mainly from the superior labial arteries, but also from the subseptal arteries and from the subalar arteries. There is a figure of 8 shaped anastomotic system between these arteries lying on the upper lip. The arterial supply of the lower lip arises from the inferior labial arteries and from branches of the mental artery. A constant inferior labial arterial network was shown at the level of the lower lip arising in a fifth of cases from a T-shaped inferior labial artery. All these recent anatomic findings help us to improve our understanding of plastic surgery of the lips.
Vascularisation artérielle des lèvres
Résumé Douze dissections de masques faciaux préalablement injectés à la gélatine minium, huit dissections de face après injection artérielle par une solution de latex néoprène rouge, et une injectioncorrosion a permis l'étude de la vascularisation artérielle labiale. La lèvre supérieure reçoit sa vascularisation artérielle des artères labiales supérieures principalement, mais aussi des artères sous-narinaires branches des artères faciales, et des artères de la sous-cloison. Il existe un système d'anastomose fréquent entre les trois artères décrivant un aspect de 8 de chiffre couché au niveau de la lèvre supérieure. La lèvre inférieure est vascularisée par les artères labiales inférieures et par des branches de l'artère mentonnière ; il existe de manière constante au niveau de la lèvre inférieure une arche artérielle labiale inférieure provenant une fois sur cinq d'une artère labiales inférieure en T unique. Toute ces données anatomiques récentes permettent d'envisager dans de meilleures conditions la chirurgie réparatrice des lèvres.相似文献
10.
Sebastien Taurin Nickolai O. Dulin Dimitri Pchejetski Ryszard Grygorczyk Johanne Tremblay Pavel Hamet Sergei N. Orlov 《The Journal of physiology》2002,543(3):835-847
Contractile activity imposed by chronic electrical stimulation of a primary skeletal muscle cell culture grown on microcarriers over several days led to an increase of slow myosin heavy chain I (MHCI) and a decrease of fast MHCII expression at mRNA and protein levels, indicating an ongoing fast-to-slow transformation. Only patterns with periods of continuous stimulation of > 5 min in a 45 min cycle were capable of inducing a fibre type transformation, and this was independent of the applied stimulation frequency over the range 1-10 Hz. We have shown before that the calcineurin-NFATc1 signalling pathway is indispensable in mediating MHCI upregulation during fibre type transformation. Therefore, subcellular localization of NFATc1 was studied immunocytochemically. This revealed that only one stimulation train lasting for > 5 min was sufficient to induce nuclear import of this factor, which was about complete after 20 min of continuous stimulation. For both induction of NFATc1 import and MHCI mRNA upregulation, the minimum stimulation interval of > 5 min was sufficient and stimulation frequency was not crucial between 1 and 10 Hz. Repetition of stimulation cycles, with pauses (< 40 min) shorter than the time required for complete export of NFATc1, led to an accumulation of NFATc1 in the nuclei with each cycle and thus to an amplification of the transformation signal during extended periods of electrostimulation. The temporal behaviour of NFATc import/export appears to determine the effectiveness of various electrostimulation protocols in inducing fast-to-slow fibre transformation. 相似文献