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971.
Discrimination of single-copy IS6110 DNA fingerprints of Mycobacterium tuberculosis isolates by high-resolution minisatellite-based typing 总被引:9,自引:0,他引:9
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Seven isoniazid-resistant isolates with mutations in the NADH dehydrogenase (ndh) gene were molecularly typed by IS6110-based restriction fragment length polymorphism analysis. All seven isolates with the R268H mutation had identical 1.4-kb IS6110 fingerprints. High-resolution minisatellite-based typing discriminated five of these isolates; two isolates were identical. 相似文献
972.
973.
Monica Rossi Enzo Ricci Luca Colantoni Giuliana Galluzzi Roberto Frusciante Pietro A Tonali Luciano Felicetti 《BMC medical genetics》2007,8(1):8
Background
The homologous 4q and 10q subtelomeric regions include two distinctive polymorphic arrays of 3.3 kb repeats, named D4Z4. An additional BlnI restriction site on the 10q-type sequence allows to distinguish the chromosomal origin of the repeats. Reduction in the number of D4Z4 repeats below a threshold of 10 at the 4q locus is tightly linked to Facioscapulohumeral Muscular Dystrophy (FSHD), while similar contractions at 10q locus, are not pathogenic. Sequence variations due to the presence of BlnI-sensitive repeats (10q-type) on chromosome 4 or viceversa of BlnI-resistant repeats (4q-type) on chromosome 10 are observed in both alleles. 相似文献974.
Daniel Ka Leung Cheuk Susanna Yuk Han Li Virginia Wong 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2006,(2):123-125
Dopamine transporter (DAT) gene is implicated in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Previously a meta-analysis concluded no association between the variable-number-of-tandem-repeats (VNTR) polymorphisms of the DAT gene and ADHD. However, significant heterogeneity was present among studies and no conclusion can be drawn about the association in any single ethnicity given the small number of studies. There were also conflicting results in Chinese populations. We therefore perform the present study to investigate the association in Chinese children in Hong Kong. In this prospective family-based and case-control study during January to June 2004, we recruited consecutive Chinese children diagnosed with ADHD by DSM-IV criteria, their family members, and sex-matched controls admitted for acute upper respiratory infection, excluding those with perinatal brain insults, mental retardation, or neurological deficits. VNTR polymorphisms of the DAT gene were determined by standard PCR followed by agarose gel electrophoresis. Sixty-four ADHD cases (52 boys, 12 girls), their family members and 64 normal controls were recruited. The 10-repeat allele (92.6%) and the 10/10 repeat genotype (85.2%) were the most prevalent. Both family-based and case-control analyses showed no association between the DAT gene polymorphisms and ADHD (transmission dysequilibrium test: P = 0.99; odds ratio of 10-repeat allele = 0.89 (95%CI 0.35-2.28), P = 0.81; odds ratio of 10/10 repeat genotype = 0.69 (95%CI 0.26-1.84), P = 0.46). We concluded that VNTR polymorphism of the DAT gene is not associated with ADHD in Chinese children, and further studies are needed to clarify the polygenic and environmental influences for pathogenesis of ADHD. 相似文献
975.
Flucher BE Obermair GJ Tuluc P Schredelseker J Kern G Grabner M 《Journal of muscle research and cell motility》2005,26(1):1-6
The skeletal muscle dihydropyridine receptor is a slowly-activating calcium channel that functions as the voltage sensor in
excitation-contraction coupling. In addition to the pore-forming α1S subunit it contains the transmembrane α2δ-1 and γ1 subunits and the cytoplasmic β1a subunit. Although the roles of the auxiliary subunits in calcium channel function have been intensively studied in heterologous
expression systems, their functions in excitation-contraction coupling has only recently been elucidated in muscle cells of
various null-mutant animal models. In this article we will briefly outline the current state of these investigations.
* To whom correspondence should be addressed: Tel.: +43-512-507-3787; Fax: +43-512-507-2836; E-mail: bernhard.e.flucher@uibk.ac.at 相似文献
976.
Activation of group I mGluRs elicits different responses in murine CA1 and CA3 pyramidal cells 总被引:3,自引:1,他引:3
Shih-Chieh Chuang Wangfa Zhao Steven R. Young François Conquet Riccardo Bianchi Robert K. S. Wong 《The Journal of physiology》2002,541(1):113-121
The group I metabotropic glutamate receptor agonist DHPG has been shown to produce two major effects on CA3 pyramidal cells at rest: a reduction in the background conductance and an activation of a voltage-gated inward current ( I mGluR(V) ). Both effects contribute to depolarising CA3 pyramidal cells and the latter has been implicated in eliciting prolonged epileptiform population bursts. We observed that DHPG-induced depolarisation was smaller in CA1 pyramidal cells than in CA3 cells. Voltage clamp studies revealed that while DHPG elicited I mGluR(V) in CA3 pyramidal cells, such a response was absent in CA1 pyramidal cells. Both mGluR1 and mGluR5 have been localised in CA3 pyramidal cells, whereas only mGluR5 has been detected in CA1 pyramidal cells. Using mGluR1 knockout mice, we evaluated whether the absence of an I mGluR(V) response can be correlated with the absence of mGluR1. In these experiments, DHPG failed to elicit I mGluR(V) in CA3 pyramidal cells. This suggests that the smaller depolarising effects of DHPG on wild-type CA1 pyramidal cells is caused, at least in part, by the absence of I mGluR(V) in these cells and that the difference in the responses of CA1 and CA3 cells may be attributable to the lack of mGluR1 in CA1 pyramidal cells. 相似文献
977.
Travis BR Marzec UM Leo HL Momin T Sanders C Hanson SR Yoganathan AP 《Annals of biomedical engineering》2001,29(8):657-664
The clinical histories of the Medtronic Parallel (MP) and St. Jude Medical (SJM) Standard valves suggest pivot geometry influences the thrombogenic characteristics of bileaflet prostheses. This work studied the effects of various pivot geometries on markers of platelet damage in a controlled, in vitro apparatus. The Medtronic Parallel valve, two St. Jude Medical valves, and two demonstration prostheses were used to study the effects of bileaflet pivot design, gap width, and size on platelet secretion and anionic phospholipid expression during leakage flow. A centrifugal pump was used to drive blood through a circuit containing a bileaflet prosthesis. Samples were taken at set time intervals after the start of the pump. These samples were analyzed by cell counting, flow cytometry, and enzyme-linked immunosorbant assay. No significant differences were observed in platelet secretion or anionic phospholipid expression between experiments with the SJM 27 Standard regular leaker, the SJM 20 regular leaker, and the MP 27 valves. Significant differences in platelet secretion and anionic phospholipid expression were observed between a SJM 27 Standard regular leaker and a SJM 27 high leaker valve. These studies suggest that leakage gap width within bileaflet valve pivots has a significant effect on platelet damage initiated by leakage flow. © 2001 Biomedical Engineering Society.
PAC01: 8719Uv, 8719Tt, 8380Lz, 8768+z 相似文献
978.
Cheung NT Fung KW Wong KC Cheung A Cheung J Ho W Cheung C Shung E Fung V Fung H 《International journal of medical informatics》2001,62(2-3):113-119
Since its inception in 1990, the Hospital Authority (HA) has strongly supported the development and implementation of information systems both to improve the delivery of care and to make better information available to managers. This paper summarizes the progress to date and discusses current and future developments. Following the first two phases of the HA information technology strategy the basic infrastructural elements were laid in place. These included the foundation administrative and financial systems and databases; establishment of a wide area network linking all hospitals and clinics together; laboratory, radiology and pharmacy systems with access to results in the ward. A major push into clinical systems began in 1994 with the clinical management system (CMS), which established a clinical workstation for use in both ward and ambulatory settings. The CMS is now running at all major hospitals, and provides single logon access to almost all the electronically collected clinical data in the HA. The next phase of development is focussed on further support for clinical activities in the CMS. Key elements include the longitudinal electronic patient record (ePR), clinical order entry, generic support for clinical reports, broadening the scope to include allied health and the rehabilitative phase, clinical decision support, an improved clinical documentation framework, sharing of clinical information with other health care providers and a comprehensive data repository for analysis and reporting purposes. 相似文献
979.
Haruo Hagiwara Nobuo Ohwada Takeo Aoki Takeshi Suzuki Kuniaki Takata 《Medical molecular morphology》2008,41(4):221-226
Stromal cells in the lamina propria of the human oviduct mucosa are unique cells that can differentiate into decidual cells
during ectopic pregnancy in the oviduct. The nature of stromal cells is still unknown. In the present study, we investigated
human oviductal stromal cells with transmission electron microscopy and immunohistochemistry and revealed that they had ultrastructural
features similar to myofibroblasts and expressed alpha-smooth muscle actin, a marker used to identify myofibroblasts. Primary
cilia were also one of the characteristic profiles of the stromal cells. These findings showed that the connective tissue-stromal
cells in the human oviduct mucosa are myofibroblasts. They are considered to play an important role in the transport of oocytes
by bringing about contraction of the mucosal folds. 相似文献
980.
Barbara Riond Marina L. Meli Ueli Braun Peter Deplazes Kaspar Joerger Rudolf Thoma Hans Lutz Regina Hofmann-Lehmann 《Comparative clinical pathology》2008,17(3):171-177
An outbreak of a fatal haemolytic anaemia in a dairy herd of cattle in Switzerland was shown to be associated with infections
with five vector-borne pathogens, namely Anaplasma marginale, A. phagocytophilum, Babesia bigemina, a Theileria spp belonging to the buffeli/sergenti/orientalis complex and haemotrophic Mycoplasma spp. The latter three had not been documented before this outbreak in Switzerland. To characterise the haematological and blood
chemical changes in these unique cows, packed cell volume was determined in all 286 blood samples, blood smears, and complete
haematology were performed from 285 and 173 blood samples, respectively, and biochemical parameters were assayed in 105 serum
samples. Regenerative anaemia was the key sign of illness. Red blood cells of anaemic cattle were hypochromic and macrocytic.
Anaemic animals had reduced platelet cell counts and increased total white cell counts. In addition, increased serum bilirubin,
blood aspartate aminotransferase, gamma glutamyltransferase, glutamic dehydrogenase and blood urea nitrogen and decreased
magnesium, calcium and albumin levels were found in anaemic cattle when compared to animals with normal packed cell volume.
Most changes could not be attributed to a single infection. A. marginale seemed to be important in causing the outbreak, but co-infections may have aggravated the disease development and clinical
signs. Thus, when encountering cattle with haemolytic anaemia, all of the mentioned pathogens should be included as differential
diagnosis. 相似文献