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991.
Maria Luiza Barth Roberto Giugliani Sandra L. Goldenfum Roberta Munarski Adriana Folberg Chandra Lekhwani Christina Slade Anthony H. Fensom 《American journal of medical genetics. Part A》1990,37(4):534-538
Lysosomal storage diseases (LSD) are a group of more than 40 disorders, many of them with overlapping phenotype, in which clinical diagnosis is often difficult. Definitive diagnosis is based on enzyme assays, a large number of such assays usually being necessary during the investigation of each patient. In addition, there will frequently be a need for tissue culture in order to provide enough material for analysis. Taking into account these difficulties, we designed a flowchart for the detection of LSD that is based on 2 sets of tests requiring only random urine and heparinized blood. Here we describe this routine and report the results of its application to 105 Brazilian patients in whom a LSD was suspected. We think that the application of this rationale represents a saving of work and costs, and should be of special interest to genetic centers in developing countries. 相似文献
992.
Abstract A monitoring of birth defects based on systematic collection and accumulation of data in a defined population or selected hospitals using definite diagnostic criteria offers per se indispensable source of information for epidemiological studies such as retrospective case-control study or prospective cohort study. Each results of statistics or monitorings of birth defects currently conducted in Japan were briefly stated. The on-going investigation data on congenital malformations about over 1,524,700 births performed since 1972 by Japan Association for Maternal Welfare were reviewed. Osaka and Kanagawa Programs, population-based, have so far totally over 181,000 and 160,000 births resp. Factors increasing malformations suggested were stillbirth, low birth weight, small for gestational dates, consanguinity and smoking during pregnancy from Kanagawa Program. As an example of on-going international collaborative study by the members of ICBDMS, data have been collected on limb reduction deformities. However, it might be more standardized in various aspects. Three statistical techniques — Z-test, cusum test and sequential method were adapted to distinguish a significant increase from a baseline frequency or to identify significant temporal changes. Although abrupt fluctuations were encountered, overall patterns about 17 marker-defects revealed to be fairly stationary in these years. Collection of sufficient numbers of cases and controls or exposed and unexposed enough to detect significantly so far unknown complicated factors is not always easy. To clarify unknown factors (polygenic, multifactorial, synergism or spontaneous errors of development), co-work or co-ordinated study of epidemiology and experimental teratology would be desirable to fill the gap between them. 相似文献
993.
公立医院改革与发展的伦理选择 总被引:2,自引:1,他引:1
我国公立医院的牌子是公立,资产属于国家,而经营行为。明显地走上了营利性道路。在公立医院改革与发展路径的选择上,既要反对由政府包办的纯公益路径,也要反对完全市场化的路径,要在坚持公益性的前提下进行有限的市场化。将公共机制与市场机制有机结合。 相似文献
994.
Zoe Marshman Barry Gibson Peter G Robinson 《Community dentistry and oral epidemiology》2009,37(1):45-57
Abstract – Objectives: To explore the impact of developmental defects of enamel (DDE) on young people, through their experiences of the condition and it’s meaning to their everyday lives. Methods: The theoretical framework chosen to guide the study was symbolic interactionism. Qualitative interviews with a purposive sample of people aged 10–15 years with varying severities of DDE were conducted in the young person’s home. The interviews were audio‐taped and transcribed verbatim. The data were analysed using constant comparative method. Photographs of participants’ teeth were taken and scored using the Thystrup and Fejerskov index (TFI) and the modified developmental defects of enamel index. Results: Twenty‐one participants were interviewed before data saturation occurred. The TFI scores ranged from 0 to 5, 11 participants had diffuse opacities and 5 had demarcated opacities. The impact of DDE was described in terms of the degree to which young people were ‘bothered’ ranging from ‘not bothered’ to ‘really quite bothered’. DDE impacted on individuals whose sense of self was defined by appearance and who depended on perceived approval from others about their appearance. No links between gender, age, severity of DDE and impact were apparent. Conclusion: Variations in the impact of DDE were related to defining aspects of sense of self rather than the enamel defects. This research is the first to discover that the sense of self explains variation in the impact of DDE. 相似文献
995.
Prevalence of enamel developmental defects in a group of 11- and 12-year-old children in South Wales
Paul M. H. Dummer Anne Kingdon Ray Kingdon 《Community dentistry and oral epidemiology》1986,14(2):119-122
The prevalence of enamel developmental defects was assessed in 579 children aged 11 and 12 yr using the DDE Index. The teeth were dried prior to the examination and a normal dental operating light was used for illumination. Teeth with some type of defective enamel were seen in 48.9% of children. White/single opacities were present in 26.4% of children and white/diffuse, patchy opacities in 9.9% of children. The enamel was abnormal in 5.74% of all teeth with white/single opacities and white/diffuse, patchy opacities occurring in 1.89% and 1.18% of teeth respectively. There was a significantly higher number of teeth affected by enamel defects in boys (P less than 0.01) and boys tended to have a higher prevalence of yellow opacities compared to girls. 相似文献
996.
Gerhard Busch 《Neurosurgical review》1987,10(4):269-273
Long term CT-investigations of nearly 6000 braintraumatized patients undergoing rehabilitative measures in the past ten years, showed pathologic findings in 85–90%: 40% showed abnormalities of the ventricular system; 60% traumatic tissue lesions; and 15% abnormalities of the brain surface. Kind and frequency of occurence of the ventricular changes found by CT were in similar to those found by pneumencephalography. Traumatic inner-hydrocephalus permagnus, which occured in about 0,25% of our patients, is considered with regard to its rehabilitative meaning. Most traumatic defects were found in the frontal lobe (36%) or in the temporal lobe (46%). Presence and etiology of traumatic infarctions were shown in CT images in 3,5% of all traumatic cases. 25% of these were situated in the posterior area: 25% in the basal ganglia; 15% in the midcerebral artery region, and 30% were typical borderline area infarctions. Because of the frequent differences between CT-findings and neurologic or neuropsychologic symptoms, CT-findings are to be judged only in conjunction with the clinical picture. They should never serve as the only guide for the exaluation of traumatic brain defects, prescribing therapy or predicting outcome. 相似文献
997.
A. K. Sharma S. K. Kothari L. D. Agarwal A. Sharma 《Pediatric surgery international》2001,17(5-6):452-454
Agenesis of the cranial bones, a rare condition usually incompatible with life, was seen in a neonate. Embryogenesis and
management of the condition are discussed. The defect heals with conservative treatment.
Accepted: 9 May 2000 相似文献
998.
999.
目的观察硫酸镁治疗蛛网膜下腔出血患者的疗效。方法将发病3d内72例蛛网膜下腔出血患者随机分为治疗组和对照组。发病3d内开始用药,对照组用尼莫地平 氨甲环酸及降颅压、维持水电解质平衡等常规治疗;治疗组在此基础上每天加用硫酸镁25mg NS 250ml静滴,治疗14d,2组患者3个月后进行欧洲卒中评分(ESS)、日常生活活动能力评分(ADL)和疗效评定。结果治疗组与对照组3个月后ADL评分分别为(86.2±5.72)(、73.46±4.95),2组比较差异有统计学意义(P<0.01);治疗组与对照组3个月后ESS评分分别为(89.23±3.54)(、78.22±2.16),2组比较差异有统计学意义(P<0.01);治疗组与对照组3个月后总有效率分别为81.57%、68.12%,2组比较差异有统计学意义(P<0.01)。结论硫酸镁能有效改善蛛网膜下腔出血患者日常生活活动能力和神经功能缺损。 相似文献
1000.
Persistent pulmonary hypertension of the newborn associated with pulmonary atresia and intact interventricular septum 总被引:1,自引:0,他引:1
M Codispoti J Burns S Haworth D Simpson P Mankad 《Heart (British Cardiac Society)》1999,82(4):531-533
Neonates with pulmonary atresia and intact interventricular septum (PAIVS) do not have pulmonary vascular disease secondary to their heart abnormality. Persistent pulmonary hypertension of the newborn has not been described in association with this condition. The case is reported of a female neonate born with PAIVS, who preoperatively had no clinical evidence or any risk factors for persistent pulmonary hypertension of the newborn, but whose postoperative course was highly suggestive of persistent pulmonary hypertension; necropsy confirmed the features of pulmonary vascular disease.
Keywords: persistent pulmonary hypertension; pulmonary atresia and intact ventricular septum; pulmonary vascular disease; surgery; congenital heart defects 相似文献
Keywords: persistent pulmonary hypertension; pulmonary atresia and intact ventricular septum; pulmonary vascular disease; surgery; congenital heart defects 相似文献