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41.
Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies 总被引:3,自引:0,他引:3
W von Petrykowski U P Ketelsen E Schmidt-Sommerfield D Penn E Sawicka E Struck W Lehnert K Haap H M Strassburg 《Clinical neuropathology》1985,4(2):63-71
Systemic carnitine deficiency is an often fatal, but treatable metabolic disorder which should be considered in any child with repeated episodes of a Reye-like syndrome or a cardiomyopathy. A 4-year-old girl with a typical history and clinical findings was successfully treated with oral carnitine. Despite low liver carnitine, ketogenesis upon fasting was normal. Normal muscle function under therapy was associated with unchanged low muscle carnitine levels. Improvement of mitochondrial structure and function was demonstrated by controlled ultrahistochemical studies. A renal carnitine leak, evident from renal clearance studies, may contribute to the pathogenesis of systemic carnitine deficiency. 相似文献
42.
Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases 总被引:3,自引:0,他引:3
Lankisch TO Strassburg CP Debray D Manns MP Jacquemin E 《The Journal of pediatrics》2005,146(6):839-842
Autoimmune regulator gene mutations were identified in 3 children with type 2 autoimmune hepatitis and extrahepatic immune diseases, including 1 child with immune hepatitis recurrence after liver transplantation. These findings suggest that autoimmune regulator gene variants might predispose children to systemic autoimmune disease, a recurrence of immune disease, or both. 相似文献
43.
Ronald?T?ActonEmail author Ellen?H?Barton William?W?Hollowell Amy?L?Dreibelbis Rodney?CP?Go James?C?Barton 《BMC cancer》2004,4(1):47
Background
We sought to evaluate the hypothesis that the high incidence of cutaneous melanoma in white persons in central Alabama is associated with a predominance of Irish and Scots descent. 相似文献44.
Yueh MF Nguyen N Famourzadeh M Strassburg CP Oda Y Guengerich FP Tukey RH 《Carcinogenesis》2001,22(6):943-950
The importance of environmental and dietary arylamines, and heterocyclic amines in the etiology of human cancer is of growing interest. These pre-carcinogens are known to undergo bioactivation by cytochrome P450 (CYP)-directed oxidation, which then become substrates for the UDP-glucuronosyltransferases (UGTs). Thus, glucuronidation may contribute to the elimination of CYP-mediated reactive intermediate metabolites, preventing a toxic event. In this study, human UGTs were analyzed for their ability to modulate the mutagenic actions of N-hydroxy-arylamines formed by CYP1A2. Studies with recombinant human UGT1A1, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, UGT2B4, UGT2B7 and UGT2B15 expressed in heterologous cell culture confirmed that UGT1A9 glucuronidated the mutagenic arylamines N-hydroxy-2-acetylaminofluorene (N-hydroxy-2AAF) and 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine (N-hydroxy-PhIP). To examine the mutagenic potential of these agents, a genotoxicity assay was employed using Salmonella typhimurium NM2009, a bacterial strain expressing the umuC SOS response gene fused to a beta-galactosidase reporter lacZ gene. DNA modification results in the induction of the umuC gene and subsequent enhancement of beta-galactosidase activity. Both N-hydroxy-2AAF and N-hydroxy-PhIP stimulated a dose-dependent increase in bacterial beta-galactosidase activity. In addition, the procarcinogens 2AAF and PhIP were efficiently bioactivated to bacterial mutagens when incubated with Escherichia coli membranes expressing CYP1A2 and NADPH reductase. CYP1A2 generated 2AAF- and PhIP-mediated DNA damage, but only the action of N-hydroxy-2AAF was blocked by expressed UGT1A9. These results indicate that UGT1A9 can control the outcome of a genotoxic response. The results also indicate that while a potential toxicant such as N-hydroxy-PhIP can serve as substrate for glucuronidation, its biological actions can exceed the capacity of the detoxification pathway to prevent the mutagenic episode. 相似文献
45.
46.
The distinction between true and suspected poisoning in children has not been made clear in previous work on childhood poisoning. A study of suspected poisoning in children under 15 years of age in a defined population of North East Bristol from November 1970 to July 1973 carried out by the Health Education Council Medical Research Division included 53,000 child-years at risk. The number of suspected poisonings was 3-4/1000 population aged under 15 years per year, with a higher incidence in younger age groups. Detailed investigation of the circumstances of the accidents carried out by a multidisciplinary team showed that at least 65%, and possibly as many as 78% were poisoning scares and not true poisoning. The evidence used by the casualty doctor and by the parents to diagnose poisoning was explored, and in many cases was circumstantial. Children with fathers in nonmanual occupations were over-represented. This may reflect differences in patterns of utilization behaviour rather than true differences in incidence. 相似文献
47.
魔芋精粉的降血糖作用 总被引:6,自引:0,他引:6
目的:研究魔芋精粉的降糖作用。方法:以不同剂量魔芋精粉ig正常小鼠和四氧嘧啶糖尿病小鼠,连续10d后,葡萄糖氧化酶法测定正常小鼠的空腹血糖、糖耐量试验以及四氧嘧 啶糖尿病小鼠的血糖尿病小鼠的血糖,以放射免疫法测定血清胰岛素。结果:魔芋精粉有降低正常小鼠血糖作用,呈一定量效关系趋势;且具有改善小鼠糖耐量作用,能明显降低四氧嘧啶糖尿病小鼠血糖,但因清胰岛素水平无明显影响。结论:魔芋精粉可能是通过影响糖代 相似文献
48.
After a 5 years' experience of cerebral sonography (about 4,500 recordings) in infants we are trying to establish correlations between alterations of anatomical structures and the further clinical development. Obviously there is no constant connexion between a simple subependymal haemorrhage and the further neurological symptoms. At the age of two and more years, about 30% had a normal state, the other part had very different clinical signs. Even an uncomplicated ventricular haemorrhage had no definite influence on the child's development in most cases. Ischemic infarctions seem to have a better prognosis than borderline-infarctions. Real intracranial cysts and slight brain atrophy seem to have only distinct neurological symptoms. Porencephalic defects or brain necrosis, e.g. after parenchymatous haemorrhages and infarctions as well as generalized hypoxic encephalopathies with increased echogenicy and progressive brain atrophy nearly always showed neurological defects, though the dimension of the brain's alteration does not clearly correlate to the clinical symptoms and the child's development. It is not possible to make a prognostic evaluation by cerebral sonography in hypoxic-ischemic brain-lesions within the first 3 weeks post partum. A more exact judgement will be given after further regular sonographic observations in all high-risk infants within the first year. Beyond this, technical and organisation-improvements will probably allow a more exact statement in future. 相似文献
49.
Dysphagia as the Sole Manifestation of Bilateral Strokes 总被引:2,自引:0,他引:2
Anthony Celifarco M.D. Gary Gerard M.D. David Faegenburg M.D. Robert Burakoff M.D. F.A.CP. 《The American journal of gastroenterology》1990,85(5):610-613
Dysphagia can be caused by a host of factors, most of which are structural or functional. However, despite extensive evaluations, a certain number of patients have unexplained dysphagia. We present an extremely unusual case whereby a patient with an acute left hemispheric cerebral vascular accident presents with dysphagia as his sole complaint and after extensive neurological, gastroenterological, and radiographic examinations is found to have cricopharyngeal dysfunction. The etiology of this defect was not at all clinically apparent and, ultimately, magnetic resonance imaging (MRI) was performed which revealed a chronic infarction of the right frontal lobe and a smaller acute infarction in the same location of the left. This case demonstrates that swallowing disorders may be the sole presentation of stroke and that, if extensive evaluations of such patients fail to yield an etiology, one must strongly consider MRI as a tool for diagnosis, even if a CT scan is negative. 相似文献
50.