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A Novel VPS33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome 下载免费PDF全文
Amanda T. Moon M.D. Theresa Christensen Jenna L. Streicher M.D. Leslie Castelo‐Soccio M.D. Ph.D. 《Pediatric dermatology》2017,34(4):e171-e173
We report a case of arthrogryposis‐renal dysfunction‐cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States. 相似文献
143.
Catherine Y. K. Westerman Jenna L. Currie-Mueller Justin S. Motto Logan C. Curti 《Health communication》2017,32(12):1520-1528
This article explores the issue of health information sharing at work through the lens of Communication Privacy Management theory. As employees must often share some health information at work for various reasons (e.g., to obtain sick leave or accommodations), determining how much to share and how to manage health information is important. The leader–member exchange relationship, stigma, risk perceptions, and the degree of privacy of each individual’s health information were investigated. The results show that leader–member exchange, stigma, and privacy contribute to an individual’s willingness to disclose health information at work and that leader–member exchange impacts perceptions of risk associated with sharing health information. 相似文献
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ObjectiveSmall increases in walking or cycling for transport could contribute to population health improvement. We explore the individual, workplace and environmental characteristics associated with the incorporation of walking and cycling into car journeys.MethodsIn 2009, participants from the Commuting and Health in Cambridge study (UK) reported transport modes used on the commute in the last week as well as individual, workplace and environmental characteristics. Logistic regression was used to assess the explanatory variables associated with incorporating walking or cycling into car commuting journeys.Results31% of car commuters (n = 419, mean age 43.3 years, SD 0.3) regularly incorporated walking or cycling into their commute. Those without access to car parking at work (OR: 26.0, 95% CI:11.8 to 57.2) and who reported most supportive environments for walking and cycling en route to work (highest versus lowest tertile, OR: 2.7, 95% CI 1.4 to 5.5) were more likely to incorporate walking or cycling into their car journeys.ConclusionsInterventions that provide pleasant and convenient routes, limit or charge for workplace car parking and provide free off-site car parking may encourage car commuters to incorporate walking and cycling into car journeys. The effects of such interventions remain to be evaluated. 相似文献
146.
Rebecca L. Bromley George Mawer Jenna Love James Kelly Laura Purdy Lauren McEwan Maria Briggs Jill Clayton Smith Xin Sin Gus A Baker 《Epilepsia》2010,51(10):2058-2065
Purpose: In this prospective study the early cognitive development of children born to women with epilepsy (n = 198) was assessed and compared to a group of children representative of the general population (n = 230). Methods: The children were assessed when younger than the age of 2 years using the Griffiths Mental Development Scales, either in their local participating hospital or in their home. The assessments were completed by an assessor who was blinded to whether the child’s mother had epilepsy and to antiepileptic drug type. Results: Children exposed to sodium valproate had a statistically significant increased risk of delayed early development in comparison to the control children. Linear regression analysis showed a statistically significant effect of sodium valproate exposure on the child’s overall developmental level that was not accounted for by confounding variables. Delayed early development is also noted for children within an ad hoc group of less commonly utilized antiepileptic drugs, although conclusions cannot be drawn due to the size of this group (n = 13). Children exposed to either carbamazepine or lamotrigine in utero did not differ significantly in their overall developmental ability. Differences noted in specific developmental areas for these two groups were not statistically significant after the control for confounders such as socioeconomic status and maternal IQ. Discussion: Women with epilepsy should be informed of the risks posed to their potential offspring prior to pregnancy to allow for informed decisions regarding treatment. Children exposed in utero to antiepileptic drugs should be monitored throughout childhood to allow for early intervention when necessary. 相似文献
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Melissa J. Hagan Danielle S. Roubinov Jenna Gress-Smith Linda J. Luecken Irwin N. Sandler Sharlene Wolchik 《Psychopharmacology》2011,214(1):231-238
Rationale
Early parental loss has been associated with neuroendocrine dysregulation in youth; however, the form of cortisol dysregulation varies widely. Identifying risk and protective factors that influence physiological regulation has important implications for understanding the development of mental health problems in parentally bereaved youth. 相似文献149.
Sheila M. Greenlaw Brad A. Yentzer Jenna L. O'Neill Rajesh Balkrishnan Steven R. Feldman 《Skin research and technology》2010,16(2):253-258
Background: Nonadherence to prescribed medications is a common problem in dermatology, and assessing adherence can be difficult. Electronic monitors are not always practical, but self‐report measures may be less reliable. Purpose: To review the literature for self‐report instruments and electronic monitors used to measure medication adherence in patients with chronic disease. Methods: A PubMed literature search was conducted using the terms ‘scale,’‘measure,’‘self‐report,’‘electronic,’ and ‘medication adherence.’ Relevant articles were reviewed and selected if they addressed self‐report or electronic measures of adherence in chronic disease. Results: Eleven self‐report instruments for the measurement of adherence were identified. Four were validated using electronic monitors. All produced an estimate of adherence that correlated with actual behavior, although this correlation was not strong for any of the measures. None of the scales was tested in patients who had dermatologic disease and/or used topical medications. Several electronic monitoring systems were identified, including pill counts, pharmacy refill logs, and the Medication Event Monitoring System (MEMS®). Validity was higher among electronic monitoring systems compared with self‐report measures. Conclusion: While several self‐report measures of adherence have been validated in chronic disease populations, their relevance in dermatology patients has not been studied. A dermatology‐specific instrument for the measurement of adherence would contribute to improved outcomes; until such a tool exists, researchers and clinicians should consider nonadherence as a possible factor in skin disease that is not responsive to treatment. Electronic monitoring provides the most reliable means of measuring adherence, and may provide additional clues to identify barriers to adherence. 相似文献
150.