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111.
Melissa A. Millar Margaret Byrne David J. Coates J. Dale Roberts 《Conservation Genetics Resources》2014,6(3):689-691
A genomic library was constructed and 14 novel polymorphic di- and tri-nucleotide nuclear microsatellite markers were developed for Grevillea globosa, an endemic shrub of southwest Western Australia. Populations are patchily distributed and population genetic structure is being investigated to inform appropriate seed collection and restoration strategies. Diversity in a selected population was high, with the number of alleles per locus ranging from 3 to 13 and expected and observed heterozygosities averaging 0.693 and 0.799 respectively. All loci showed independent inheritance and there was no evidence of possible null alleles. 相似文献
112.
113.
Loredana Bury Karyn Megy Jonathan C. Stephens Luigi Grassi Daniel Greene Nick Gleadall Karina Althaus David Allsup Tadbir K. Bariana Mariana Bonduel Nora V. Butta Peter Collins Nicola Curry Sri V. V. Deevi Kate Downes Daniel Duarte Kim Elliott Emanuela Falcinelli Bruce Furie David Keeling Michele P. Lambert Rachel Linger Sarah Mangles Rutendo Mapeta Carolyn M. Millar Christopher Penkett David J. Perry Kathleen E. Stirrups Ernest Turro Sarah K. Westbury John Wu NIHR BioResource Keith Gomez Kathleen Freson Willem H. Ouwehand Paolo Gresele Ilenia Simeoni 《Human mutation》2020,41(1):277-290
The heterogeneous manifestations of MYH9‐related disorder (MYH9‐RD), characterized by macrothrombocytopenia, Döhle‐like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging in clinical practice. We collected phenotypic data and analyzed the genetic variants in more than 3,000 patients with a bleeding or platelet disorder. Patients were enrolled in the BRIDGE‐BPD and ThromboGenomics Projects and their samples processed by high throughput sequencing (HTS). We identified 50 patients with a rare variant in MYH9. All patients had macrothrombocytes and all except two had thrombocytopenia. Some degree of bleeding diathesis was reported in 41 of the 50 patients. Eleven patients presented hearing impairment, three renal failure and two elevated liver enzymes. Among the 28 rare variants identified in MYH9, 12 were novel. HTS was instrumental in diagnosing 23 patients (46%). Our results confirm the clinical heterogeneity of MYH9‐RD and show that, in the presence of an unclassified platelet disorder with macrothrombocytes, MYH9‐RD should always be considered. A HTS‐based strategy is a reliable method to reach a conclusive diagnosis of MYH9‐RD in clinical practice. 相似文献
114.
115.
High speed cyclic voltammetry was used in combination with pressure ejection of ascorbate oxidase for the determination of extracellular ascorbic acid within the brain of the anaesthetized rat. Large variations in absolute levels of ascorbate were found between animals although distribution patterns showed a good degree of reproducibility. Ascorbate levels in the white matter of the corpus callosum were found to be higher than in adjacent areas of grey matter (striatum and cortex). 相似文献
116.
Type‐specific clinical characteristics of adenovirus‐associated influenza‐like illness at five US military medical centers, 2009–2014
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117.
Clostridial hand-carriage and neonatal necrotising enterocolitis 总被引:1,自引:0,他引:1
118.
119.
Julia Torabi Juan P. Rocca Krystina Choinski Katherine Lorenzen Camille Yongue Michelle L. Lubetzsky Melvon E. Herbert Attasit Chokechanachaisakul Maria Ajaimy Layla Kamal Enver Akalin Milan Kinkhabwala Jay A. Graham 《Clinical transplantation》2018,32(1)
Background
We analyze our outcomes utilizing imported allografts as a strategy to shorten wait list time for pancreas transplantation.Methods
This is an observational retrospective cohort of 26 recipients who received either a locally procured (n = 16) or an imported pancreas graft (n = 10) at our center between January 2014 and May 2017. Wait list times of this cohort were compared to UNOS Region 9 (New York State and Western Vermont). Hospital financial data were also reviewed to analyze the cost‐effectiveness of this strategy.Results
Imported pancreas grafts had significantly increased cold ischemia times (CIT) and peak lipase (PL) levels compared to locally procured grafts (CIT 827 vs 497 minutes; P = .001, PL 563 vs 157 u/L; P = .023, respectively). There were no differences in graft or patient survival. The median wait time was significantly lower for simultaneous kidney‐pancreas transplants at our center (518 days, n = 21) compared to Region 9 (1001 days, n = 65) P = .038. Despite financial concerns, the cost of transport for imported grafts was offset by lower standard acquisition costs.Conclusions
Imported pancreas grafts may be a cost‐effective strategy to increase organ utilization and shorten wait times in regions with longer waiting times. 相似文献120.
Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors. 总被引:22,自引:0,他引:22
V A Marcus L Madlensky R Gryfe H Kim K So A Millar L K Temple E Hsieh T Hiruki S Narod B V Bapat S Gallinger M Redston 《The American journal of surgical pathology》1999,23(10):1248-1255
Inactivation of deoxyribonucleic acid (DNA) mismatch repair genes, most commonly human mutL homologue 1 (hMLH1) or human mutS homologue 2 (hMSH2), is a recently described alternate pathway in cancer development and progression. The resulting genetic instability is characterized by widespread somatic mutations in tumor DNA, and is termed high-frequency microsatellite instability (MSI-H). Although described in a variety of tumors, mismatch repair deficiency has been studied predominantly in colorectal carcinoma. Most MSI-H colorectal carcinomas are sporadic, but some occur in patients with hereditary nonpolyposis colorectal cancer (HNPCC), and are associated with germline mutations in mismatch repair genes. Until now, the identification of MSI-H cancers has required molecular testing. To evaluate the role of immunohistochemistry as a new screening tool for mismatch repair-deficient neoplasms, the authors studied the expression of hMLH1 and hMSH2, using commercially available monoclonal antibodies, in 72 formalin-fixed, paraffin-embedded tumors that had been tested previously for microsatellite instability. They compared immunohistochemical patterns of 38 MSI-H neoplasms, including 16 cases from HNPCC patients with known germline mutations in hMLH1 or hMSH2, with 34 neoplasms that did not show microsatellite instability. Thirty-seven of 38 MSI-H neoplasms were predicted to have a mismatch repair gene defect, as demonstrated by the absence of hMLH1 and/or hMSH2 expression. This included correspondence with all 16 cases with germline mutations. All 34 microsatellite-stable cancers had intact staining with both antibodies. These findings clearly demonstrate that immunohistochemistry can discriminate accurately between MSI-H and microsatellite-stable tumors, providing a practical new technique with important clinical and research applications. 相似文献