全文获取类型
收费全文 | 245篇 |
免费 | 10篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 6篇 |
妇产科学 | 7篇 |
基础医学 | 38篇 |
口腔科学 | 1篇 |
临床医学 | 20篇 |
内科学 | 110篇 |
皮肤病学 | 9篇 |
神经病学 | 9篇 |
特种医学 | 17篇 |
外科学 | 13篇 |
综合类 | 2篇 |
预防医学 | 9篇 |
眼科学 | 1篇 |
药学 | 3篇 |
中国医学 | 1篇 |
肿瘤学 | 8篇 |
出版年
2023年 | 4篇 |
2022年 | 3篇 |
2021年 | 3篇 |
2020年 | 3篇 |
2019年 | 2篇 |
2018年 | 6篇 |
2017年 | 6篇 |
2016年 | 3篇 |
2015年 | 10篇 |
2014年 | 9篇 |
2013年 | 10篇 |
2012年 | 12篇 |
2011年 | 16篇 |
2010年 | 8篇 |
2009年 | 2篇 |
2008年 | 16篇 |
2007年 | 9篇 |
2006年 | 15篇 |
2005年 | 16篇 |
2004年 | 9篇 |
2003年 | 2篇 |
2002年 | 5篇 |
2001年 | 7篇 |
2000年 | 4篇 |
1999年 | 4篇 |
1998年 | 4篇 |
1992年 | 4篇 |
1991年 | 4篇 |
1990年 | 3篇 |
1989年 | 5篇 |
1987年 | 4篇 |
1986年 | 4篇 |
1985年 | 2篇 |
1984年 | 5篇 |
1982年 | 2篇 |
1981年 | 2篇 |
1980年 | 2篇 |
1979年 | 4篇 |
1976年 | 2篇 |
1975年 | 4篇 |
1972年 | 2篇 |
1971年 | 3篇 |
1947年 | 1篇 |
1937年 | 1篇 |
1936年 | 1篇 |
1935年 | 2篇 |
1932年 | 2篇 |
1931年 | 1篇 |
1918年 | 1篇 |
1913年 | 1篇 |
排序方式: 共有255条查询结果,搜索用时 15 毫秒
1.
Jelley MJ Wortmann R 《BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy》2000,14(2):99-107
One of the earliest described conditions, gout continues to plague humanity. It is characterised by the deposition of monosodium urate crystals in the joints and soft tissue. The main clinical features of gout are hyperuricaemia, acute monoarticular arthritis, tophi and chronic arthritis, along with nephrolithiasis. Gout typically occurs in middle age and more commonly in men. Asymptomatic hyperuricaemia does not require treatment. The initial attack of acute gout usually affects a single joint, often the first metatarsal phalangeal joint. Definitive diagnosis requires demonstration of urate crystals in the joint fluid. Treatment of acute gout includes nonsteroidal anti-inflammatory drugs (NSAIDs), colchicine and corticosteroids. The most important factor in success of treatment is how quickly therapy is begun after onset of symptoms. Drug treatment of hyperuricaemia includes allopurinol, sulfinpyrazone, probenecid and benzbromarone and should be used in patients with frequent gout attacks, tophi or urate nephropathy. 相似文献
2.
3.
The metabolic myopathies are a heterogeneous group of diseases, including glycogenoses, disorders of lipid metabolism, and mitochondrial myopathies, that result primarily from inborn errors of metabolism. Most of these metabolic defects cause medical conditions that manifest early in life. Nevertheless, clinical presentations during the teenage years and adulthood are increasingly being recognized. Many of the clinical manifestations of these diseases are difficult to differentiate from those observed in the idiopathic inflammatory myopathies, especially polymyositis. A directed evaluation using the clinical, laboratory, and genetic approaches summarized in this article, however, should allow for the differentiation of most metabolic myopathies from polymyositis and other forms of idiopathic inflammatory myopathy. The diagnosis of a metabolic myopathy should be considered in patients who appear to have polymyositis but lack the characteristic changes of inflammation found on EMG, MRI, or muscle histology, or in such patients who are refractory to immunosuppressive therapy. The forearm ischemic exercise test is especially useful to screen for some inborn errors of glycogen metabolism or glycolysis and for myoadenylate deaminase deficiency. Thorough analysis of muscle tissue, including histology, histochemistry, biochemistry, and occasionally electron microscopy, is often necessary to make the diagnosis of a metabolic myopathy. Advances in molecular biology methods and knowledge of the precise genetic defects associated with these metabolic defects are dramatically increasing our capacity to diagnose patients with a widening range of myopathies. It is expected that, with further understanding of the mechanisms of the metabolic and idiopathic inflammatory myopathies, the differentiation of these disorders into their pathogenetic components, and the capacity to diagnose them will continue to improve. These are essential factors in improving genetic counseling and eventually the therapy of these serious, and currently incurable, disorders. 相似文献
4.
Kornelia Neveling Ilse Feenstra Christian Gilissen Lies H. Hoefsloot Erik‐Jan Kamsteeg Arjen R. Mensenkamp Richard J. T. Rodenburg Helger G. Yntema Liesbeth Spruijt Sascha Vermeer Tuula Rinne Koen L. van Gassen Danielle Bodmer Dorien Lugtenberg Rick de Reuver Wendy Buijsman Ronny C. Derks Nienke Wieskamp Bert van den Heuvel Marjolijn J.L. Ligtenberg Hannie Kremer David A. Koolen Bart P.C. van de Warrenburg Frans P.M. Cremers Carlo L.M. Marcelis Jan A.M. Smeitink Saskia B. Wortmann Wendy A.G. van Zelst‐Stams Joris A. Veltman Han G. Brunner Hans Scheffer Marcel R. Nelen 《Human mutation》2013,34(12):1721-1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. So far it is not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. The current yield of this traditional diagnostic approach depends on a complex of factors that include gene‐specific phenotype traits, and the relative frequency of the involvement of specific genes. To gauge the impact of the paradigm shift that is occurring in molecular diagnostics, we assessed traditional Sanger‐based sequencing (in 2011) and exome sequencing followed by targeted bioinformatics analysis (in 2012) for five different conditions that are highly heterogeneous, and for which our center provides molecular diagnosis. We find that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. For microsatellite‐stable colorectal cancer, this was low under both strategies. Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. 相似文献
5.
Frequency of myopathy in patients receiving lovastatin 总被引:1,自引:0,他引:1
6.
The concept of mimicking structural colour in nature as an alternative to traditional textile coloration techniques would reduce dependency on dyes, pigments and vast quantities of water in the textile supply chain. Structural colours originate from the physical interaction of light with nanoscale structures. This is exhibited in the bodies and wings of certain species of butterfly, beetles and plants. The angular optical effects of the Chrysina gloriosa beetle result from the periodicity due to the cholesteric liquid crystal (CLC) structure adopted by the cells in their exoskeleton. The optical properties of CLCs makes promising applications for optical sensors and anti-counterfeit materials. Application using inkjet printing technology enables designs to be tuned to meet product requirements, and with a hydrophobic treatment challenges associated with a rough surface such as textiles are overcome. Here we report inkjet printing CLC solutions onto hydrophobic pre-treated textiles. CIE L*a*b* values demonstrate the resultant colourful films display a greater degree of colour compared to those on untreated textiles.The concept of mimicking structural colour in nature as an alternative to traditional textile coloration techniques would reduce dependency on dyes, pigments and vast quantities of water in the textile supply chain. 相似文献
7.
8.
J. de Ruijter L. Broere M. F. Mulder A. T. van der Ploeg M. E. Rubio-Gozalbo S. B. Wortmann G. Visser F. A. Wijburg 《Journal of inherited metabolic disease》2014,37(3):447-454
Background
Mucopolysaccharidosis III (MPS III), known as Sanfilippo disease, is a lysosomal storage disorder mainly characterized by progressive neurodegeneration with cognitive decline and relatively attenuated somatic signs and symptoms. Although short stature is invariably present in patients with the other mucopolysaccharidoses, it has not been sufficiently addressed in MPS III. The aim of this study was to investigate growth data of a large Dutch MPS III cohort in order to construct growth charts for MPS III patients.Methods
Height, weight, head circumference (HC), and body mass index (BMI) data from 118 MPS III patients were used to construct reference curves, using the lambda, mu, sigma (LMS) method. Genotype-group comparisons for height standard deviation scores (SDS) were performed by Kruskal–Wallis analysis for different age groups.Results
Birth weight and length were within normal ranges for gestational age and showed a significantly stunted growth from age 6 years onward. Mean final heights were 169.7 cm (?2.0 SDS) and 165.4 cm (?0.84 SDS) for adult male and female, patients, respectively. Phenotypic severity, as assessed by genotyping, correlated with growth pattern and final height. In addition, mean BMI and HC SDS were significantly higher when compared with Dutch standards for both boys and girls.Conclusions
Growth in MPS III is stunted mainly in patients with the severe phenotype. We provide disease-specific growth references that can be used for clinical management of MPS III patients and may be of value for future treatment studies. 相似文献9.
Morava E Wortmann SB van Essen HZ Liebrand van Sambeek R Wevers R van Diggelen OP 《Journal of inherited metabolic disease》2005,28(5):703-706
Summary Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable
biochemical alterations in blood. We studied the clinical and biochemical characteristics including the urinary oligosaccharide
excretion of seven unrelated children. The urinary tetraglucoside excretion was increased in four children, three of whom
had persistently high cholesterol and triglyceride concentrations. We propose screening for urine tetraglucoside excretion
and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis. 相似文献
10.
Treatment of acute gouty arthritis: One physician’s approach and where this management stands relative to developments in the field 总被引:1,自引:0,他引:1
Wortmann RL 《Current rheumatology reports》2004,6(3):235-239
An attack of acute gouty arthritis is one the most painful episodes that can be experienced by humans. Fortunately, there
are three classes of agents that can effectively terminate the acute attack. These include colchicine, nonsteroidal anti-inflammatory
drugs, and glucocorticoids. If therapy with any one of these is initiated promptly after the onset of symptoms, relief should
occur quickly. Recent observations have increased the knowledge of crystal-induced acute inflammatory responses. These observations
allow a better understanding of the mechanisms of action of these agents and provide the rationale for using them in combination
in severe or refractory cases. 相似文献