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101.
102.
Ranawaka A. P. M. Perera Ronald Ko Owen T. Y. Tsang David S. C. Hui Mike Y. M. Kwan Christopher J. Brackman Esther M. W. To Hui-ling Yen Kathy Leung Samuel M. S. Cheng Kin Ho Chan Karl C. K. Chan Ka-Chi Li Linda Saif Vanessa R. Barrs Joseph T. Wu Thomas H. C. Sit Leo L. M. Poon Malik Peiris 《Journal of clinical microbiology》2021,59(2)
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Gordana Raca Becky S Baas Salman Kirmani Jennifer J Laffin Craig A Jackson Edythe A Strand Kathy J Jakielski Lawrence D Shriberg 《European journal of human genetics : EJHG》2013,21(4):455-459
We report clinical findings that extend the phenotype of the ∼550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree (‘KE'') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures. 相似文献
105.
Matthias Grges Kathy L. Rush Lindsay Burton Mona Mattei Selena Davis Heidi Scott Mindy A. Smith Leanne M. Currie 《Applied clinical informatics》2021,12(1):41
Background Personal health records (PHR) provide opportunities for improved patient engagement, collection of patient-generated data, and overcome health-system inefficiencies. While PHR use is increasing, uptake in rural populations is lower than in urban areas. Objectives The study aimed to identify priorities for PHR functionality and gain insights into meaning, value, and use of patient-generated data for rural primary care providers. Methods We performed PHR preimplementation focus groups with rural providers and their health care teams from five primary care clinics in a sparsely populated mountainous region of British Columbia, Canada to obtain their understanding of PHR functionality, needs, and perceived challenges. Results Eight general practitioners (GP), five medical office assistants, two nurse practitioners (NP), and two registered nurses (14 females and 3 males) participated in focus groups held at their respective clinics. Providers (GPs, NPs, and RNs) had been practicing for a median of 9.5 (range = 1–38) years and had used an electronic medical record for 7.0 (1–20) years. Participants expressed interest in incorporating functionality around two-way communication and appointment scheduling, previsit data gathering, patient and provider data sharing, virtual care including visits using videoconferencing tools, and postvisit sharing of educational materials. Three further themes emerged from the focus groups: (1) the context in which the providers'' practice matters, (2) the need for providing patients and providers with choice (e.g., which data to share, who gets to initiate/respond in communications, and processes around virtual care visits), and (3) perceived risks of system use (e.g., increased complexity for older patients and workload barriers for the health care team). Conclusion Rural primary care teams perceived PHR opportunities for increased patient engagement and access to patient-generated data, while worries about changes in workflow were the biggest perceived risk. Recommendations for PHR adoption in a rural primary health network include setting provider-patient expectations about response times, ability to share notes selectively, and automatically augmented note-taking from virtual-care visits. 相似文献
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Laura M Kuyper Courtney Lc Collins Thomas Kerr Robert S Hogg Kathy Li Mark W Tyndall Julio Sg Montaner Evan Wood 《The Canadian Journal of Infectious Diseases & Medical Microbiology》2005,16(4):225-229
BACKGROUND: While several studies have reported on sexual risk behaviours and the prevalence of sexually transmitted infections (STIs) among injection drug users (IDUs), there are fewer prospective studies that have been able to examine populations of IDUs with no history of STIs. Therefore, the authors examined prevalence, correlates and factors associated with time to first STI infection in a prospective cohort of IDUs in Vancouver, British Columbia. METHODS: The authors examined the prevalence and correlates of STIs among IDUs at the time of recruitment into a prospective cohort study. The authors also evaluated the cumulative rate of time to first STI among IDUs with no history of STIs at baseline using the Kaplan-Meier method, and modelled factors independently associated with first STI using Cox regression. RESULTS: Between May 1996 and November 2003, 1560 individuals were recruited into the cohort; of these individuals, 745 reported a history of STI at baseline. Among the 815 who did not report an STI at baseline, 671 (82%) had at least one follow-up visit and were eligible for the analysis of time to first STI. After 36 months of follow-up, the cumulative rate of first STI was 8.2% for men and 15.9% for women (log-rank P<0.001), whereas the cumulative rate of first STI was 8.0% for IDUs who did not report sex trade involvement versus 19.8% for IDUs who reported sex trade involvement (log-rank P<0.001). In multivariate analyses, the risk of first STI remained independently associated with unprotected sex with regular partners (relative hazard=2.04, 95% CI 1.29 to 3.23; P=0.001) and unprotected sex with sex trade clients (relative hazard=2.36, 95% CI 1.46 to 3.82; P=0.005). CONCLUSIONS: In the present study, the authors found that STIs were associated with both regular sex partnerships and sex trade involvement. These findings are of particular concern because both unprotected sex with regular partners and sex trade involvement is common among IDUs. Interventions to encourage condom use among IDUs, particularly those with regular sex partners and those involved in the sex trade, should be further developed. 相似文献
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Kyle D. Smith Beatrice Achan Kathy Huppler Hullsiek Tami R. McDonald Laura H. Okagaki Ali A. Alhadab Andrew Akampurira Joshua R. Rhein David B. Meya David R. Boulware Kirsten Nielsen 《Antimicrobial agents and chemotherapy》2015,59(12):7197-7204
Cryptococcal antigen screening is recommended among people living with AIDS when entering HIV care with a CD4 count of <100 cells/μl, and preemptive fluconazole monotherapy treatment is recommended for those with subclinical cryptococcal antigenemia. Yet, knowledge is limited of current antimicrobial resistance in Africa. We examined antifungal drug susceptibility in 198 clinical isolates collected from Kampala, Uganda, between 2010 and 2014 using the CLSI broth microdilution assay. In comparison with two previous studies from 1998 to 1999 that reported an MIC50 of 4 μg/ml and an MIC90 of 8 μg/ml prior to widespread human fluconazole and agricultural azole fungicide usage, we report an upward shift in the fluconazole MIC50 to 8 μg/ml and an MIC90 value of 32 μg/ml, with 31% of isolates with a fluconazole MIC of ≥16 μg/ml. We observed an amphotericin B MIC50 of 0.5 μg/ml and an MIC90 of 1 μg/ml, of which 99.5% of isolates (197 of 198 isolates) were still susceptible. No correlation between MIC and clinical outcome was observed in the context of amphotericin B and fluconazole combination induction therapy. We also analyzed Cryptococcus susceptibility to sertraline, with an MIC50 of 4 μg/ml, suggesting that sertraline is a promising oral, low-cost, available, novel medication and a possible alternative to fluconazole. Although the CLSI broth microdilution assay is ideal to standardize results, limit human bias, and increase assay capacity, such assays are often inaccessible in low-income countries. Thus, we also developed and validated an assay that could easily be implemented in a resource-limited setting, with similar susceptibility results (P = 0.52). 相似文献
110.
Lukas F. Mager Carsten Riether Christian M. Schürch Yara Banz Marie-Hélène Wasmer Regula Stuber Alexandre P. Theocharides Xiaohong Li Yu Xia Hirohisa Saito Susumu Nakae Gabriela M. Baerlocher Markus G. Manz Kathy D. McCoy Andrew J. Macpherson Adrian F. Ochsenbein Bruce Beutler Philippe Krebs 《The Journal of clinical investigation》2015,125(7):2579-2591
Myeloproliferative neoplasms (MPNs) are characterized by the clonal expansion of one or more myeloid cell lineage. In most cases, proliferation of the malignant clone is ascribed to defined genetic alterations. MPNs are also associated with aberrant expression and activity of multiple cytokines; however, the mechanisms by which these cytokines contribute to disease pathogenesis are poorly understood. Here, we reveal a non-redundant role for steady-state IL-33 in supporting dysregulated myelopoiesis in a murine model of MPN. Genetic ablation of the IL-33 signaling pathway was sufficient and necessary to restore normal hematopoiesis and abrogate MPN-like disease in animals lacking the inositol phosphatase SHIP. Stromal cell–derived IL-33 stimulated the secretion of cytokines and growth factors by myeloid and non-hematopoietic cells of the BM, resulting in myeloproliferation in SHIP-deficient animals. Additionally, in the transgenic JAK2V617F model, the onset of MPN was delayed in animals lacking IL-33 in radio-resistant cells. In human BM, we detected increased numbers of IL-33–expressing cells, specifically in biopsies from MPN patients. Exogenous IL-33 promoted cytokine production and colony formation by primary CD34+ MPN stem/progenitor cells from patients. Moreover, IL-33 improved the survival of JAK2V617F-positive cell lines. Together, these data indicate a central role for IL-33 signaling in the pathogenesis of MPNs. 相似文献