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121.
Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines 下载免费PDF全文
George T. Capone Brian Chicoine Peter Bulova Mary Stephens Sarah Hart Blythe Crissman Andrea Videlefsky Katherine Myers Nancy Roizen Anna Esbensen Moya Peterson Stephanie Santoro Jason Woodward Barry Martin David Smith for the Down Syndrome Medical Interest Group DSMIG‐USA Adult Health Care Workgroup 《American journal of medical genetics. Part A》2018,176(1):116-133
Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co‐occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight‐obesity, sleep apnea, congenital heart disease, and osteopenia‐osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision‐making and management of these medically complex individuals. The development of evidence‐based clinical guidance will require an expanded clinical knowledge‐base in order to move forward. 相似文献
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JILL LINDSTROM CAPT MC USA KATHLEEN J. SMITH COL MC USA HENRY G. SKELTON CAPT MC USA ROBERT REDFIELD LTC MC USA BARBARA M. ALVINGCOL MC USA KENNETH F. WAGNER D.O. GEORGE P. LUPTON COL MC USA MILITARY MEDICAL CONSORTIUM FOR THE ADVANCEMENT OF RETROVIRAL RESEARCH 《International journal of dermatology》1995,34(6):408-415
Background and Objective. Anetoderma has been reported in patients with HIV-1 disease. In patients with autoimmune disease, anetoderma has been associated with increased levels of antiphospholipid antibodies (APL) that include anticardiolipin antibodies (ACA) and lupus anticoagulant (LA). This has led to speculation that the autoimmune phenomena seen in HIV-1 disease and the immune dysregulation induced by HIV-1 disease may play a role in the development of these lesions. We have seen both primary and secondary lesions of anetoderma in patients followed for HIV-1 disease. In this study, we wanted to determine whether there was an association in the development of anetoderma and elevated anticardiolipin antibodies (ACA) in HIV-1 patients. Methods. Quantitative ACA levels were measured in eight HIV-1-infected patients with anetoderma and four HIV-1-infected patients without anetoderma. Results. Anticardiolipin antibodies were moderately elevated in seven of eight patients with lesions and were borderline in the four HIV-1-positive patients without lesions of anetoderma. Conclusions. There appears to be a correlation between increased ACA and the development of cutaneous lesions of anetoderma in HIV-I disease. Patterns of immune dysregulation, including APL, may predispose to the development of lesions of anetoderma in HIV-1-positive patients. Although some of the lesions appear to represent primary anetoderma, the majority of our patients develop lesions in areas secondary to well characterized eruptions. 相似文献
124.
Maj DAVID PHILLIPS SMACK MC USA Maj SCOTT A. NORTON MC USA Col JAMES E. FITZPATRICK MC USA 《International journal of dermatology》1996,35(4):265-271
Background. Deposition of calcium in skin is currently categorized into a group of disorders referred to as calcinosis cutis. Divisions between types and subtypes within this confusing classification are predominantly based on morphologic differences in the calcification and serve to obscure pathogenesis. This is especially evident in a subtype of calcinosis cutis, known as tumoral calcinosis. Calcifications in cases of tumoral calcinosis share the following characteristics, but without evidence of a common pathogenesis: large size, juxtaarticular location, progressive enlargement over time, a tendency to recur after surgical removal, and an ability to encase adjacent normal structures. The goal of this study was to formulate a pathogenesis-based classification for cases of tumoral calcinosis. Methods. In a literature review 121 cases of tumoral calcinosis were identified. These cases, along with a case evaluated in our clinic, were reviewed retrospectively, and their features compared. Results. Analysis suggests three pathogenetically distinct subtypes of tumoral calcinosis: (1) Primary normophosphatemic tumoral calcinosis: patients have normal serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; (2) primary hyperphosphatemic tumoral calcinosis: patients have elevated serum phosphate, normal serum calcium, and no evidence of disorders previously associated with soft tissue calcification; and (3) secondary tumoral calcinosis: patients have a concurrent disease capable of causing soft tissue calcification. Justification for this classification is based on the presence or absence of disorders known to promote soft tissue calcification and statistically significant differences in family history, mean calcification number, mean serum phosphate level, and calcification recurrence after excision. Conclusions. A classification for tumoral calcinosis is devised that outlines potential pathogenetic mechanisms and predicts response to therapy and prognosis. Analysis of other forms of calcinosis cutis may reveal definable pathogenetic differences that suggest a coherent classification for all cutaneous calcinoses. 相似文献
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CPT Mary K. Mather MC USA LTC Leonard C. Sperling MC USA COL Purnima Sau MC USA 《International journal of dermatology》1997,36(6):450-452
The patient in this study was an 18-day-old healthy boy, delivered by caesarean section at 33 weeks gestation, and the product of a pregnancy complicated by gestational diabetes and preterm labor. At 10 days old, three dermal and subcutaneous nodules were noted on the midline of the back (Fig. 1). The nodules measured 1–3 cm in size; they were firm, mobile, and multilobulated in quality. The overlying epidermis was slightly erythematous, but otherwise appeared normal.
A skin biopsy obtained 8 days after the lesions were first noted is shown in Fig. 2(a); necrosis of the fat with giant cell formation and characteristic needle-shaped clefts within residual fat cells can be seen (Fig. 2b). 相似文献
A skin biopsy obtained 8 days after the lesions were first noted is shown in Fig. 2(a); necrosis of the fat with giant cell formation and characteristic needle-shaped clefts within residual fat cells can be seen (Fig. 2b). 相似文献
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TROY K. RICHEY Cpt MC USA SCOTT D. BENNION Col MC USA 《International journal of dermatology》1996,35(8):553-557
Background. The sicca syndrome has been defined as the occurrence of xerostomia and xerophthalmia. Sjögren's syndrome is the most common cause of the sicca syndrome; however, these two syndromes are not synonymous and there are many potential etiologies of the sicca syndrome. A less known cause of sicca syndrome is amyloidosis that to date has only been reported in the nondermatology literature. Observations. A 79-year-old man with known amyloidosis presented with persistent xerostomia. He had the classic cutaneous findings of periorbital and “pinch” purpura. A labial biopsy showed diffuse deposition of amorphous eosinophilic material surrounding salivary acini. Apple-green birefringence was noted with Congo red staining and the diagnosis was made of amyloidosis in the minor salivary glands causing xerostomia. Conclusions. The sicca syndrome can be caused by systemic amyloidosis. Because this fact is not in the dermatologic literature, many dermatologists are not aware of this uncommon presentation. The knowledge of the many causes of the sicca syndrome and an understanding of the differences between this and Sjögren's syndromes are important for any dermatologist. 相似文献
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非结核分枝杆菌(NTM)代表已被从土壤和水中分离出的一群广泛的生物体,暴露于这些细菌被认为是人类感染的源泉。过去的10年里,由于新的、更敏感的分子生物学实验技术应用于NTM菌种鉴定,不仅新的NTM物种显著的增加,而且NTM的分离频率也有所增加。目前有超过140种NTM,其中至少40种与肺内感染相关(表1)1。随着NTM分离率的增加和新物种的丰富,当1个病人呼吸道样本的中有NTM菌种生长时,临床医生越来越多的面临着确定怎样的临床治疗方案。这篇文章将会试图讨论我们几乎每天都会被我们的同事(往往是我们的病人)问及的3个重要问题:1)NTM感染在增长吗,如果是,原因是什么?2)如果我的病人真的有NTM肺病,我如何知道?3)我需要治疗我的病人吗?如果需要,怎么治疗?通过阐述上述每一个问题,我们希望用一些有用的信息武装临床医生,让他们更好理解并与治疗感染的困难斗争。 相似文献