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OBJECTIVE AND IMPORTANCE: Medulloblastoma is the most common malignant brain tumor and the most common malignant solid tumor in children. Most medulloblastomas are sporadic, but rare familial forms have been described. To the best of our knowledge, only 10 case reports of familial medulloblastoma have been published. A variety of candidate genes have been suggested to be involved in familial medulloblastomas. However, the exact pathogenesis and genetics involved in familial medulloblastoma remain unknown. CLINICAL PRESENTATION: We describe the presentation of medulloblastoma in two siblings (one of each sex) and their great-uncle. The three cases differ with regard to age at onset and pathological subtype of medulloblastoma. INTERVENTION OR TECHNIQUE: Immunostaining of tissue blocks for gene products involved in medulloblastoma differed in the two siblings for beta-catenin and was similar with staining for gli. CONCLUSION: This article is only the second report in the literature to address the genetics of familial medulloblastoma in the absence of characterized conditions such as Li-Fraumeni's cancer syndrome and basal cell nevus, Rubinstein-Taybi's, and Turcot's syndromes. The discrepancy in beta-catenin staining in the two siblings suggests that the two tumors differentiated through divergent pathways. We briefly summarize all published cases of familial medulloblastoma and review the literature on the genes involved in medulloblastoma formation. 相似文献
94.
Kant AK 《Obesity research》2002,10(12):1259-1269
OBJECTIVE: Children's self perception of body weight and the medical definition of obesity show poor correlation. This study examined the independent associations of body mass index (BMI) and self-perceived weight status (considered self over-, under-, or right weight) with food reporting, nutrient intake estimates, and biomarkers of dietary exposure. RESEARCH METHODS AND PROCEDURES: Dietary (one 24-hour recall), anthropometric, and biochemical data were from the third National Health and Nutrition Examination Survey (1269 boys and 1385 girls, ages 12 to 18 years). Sex-specific multiple regression analyses were used to determine the association of BMI and self-perceived body weight status with reported intakes of energy, macronutrients, low-nutrient-dense foods, micronutrients, and serum concentrations of selected vitamins and carotenoids. RESULTS: Reported intakes of energy, macronutrients, number of eating occasions, percentage of energy from low-nutrient-dense foods, likelihood of meeting the standard of intake of micronutrients, and biomarkers were not different among boys and girls who perceived themselves as overweight relative to those who perceived themselves at the right weight (p > 0.05). In boys, BMI was a negative predictor of percentage of energy from low-nutrient-dense foods (p = 0.004) and intake of ascorbic acid (p = 0.04). BMI was inversely related to serum concentrations of most carotenoids (p < or = 0.002). DISCUSSION: Perceiving oneself as overweight was not associated with reporting of low-nutrient-dense foods, macronutrients, micronutrients, and biomarker status; BMI, however, was a significant predictor of several outcomes. 相似文献
95.
Rawson RA Huber A Brethen P Obert J Gulati V Shoptaw S Ling W 《Journal of addictive diseases》2002,21(1):107-119
Increasing numbers of methamphetamine users sought treatment during the decade of the 1990s. Little is known about the post treatment status of methamphetamine users who enter treatment. The data presented in this paper describe the outcome status of a group of a convenience sample of 114 methamphetamine users from a total group of 500 methamphetamine users who were treated 2-5 years prior to a follow up interview. Since the sample was not randomly selected, no specific treatment outcome attribution is possible. Methamphetamine use and other drug use of the follow up sample was substantially reduced from pretreatment levels. In general, the follow up status of the sample was much improved as compared to before treatment. However, headaches and depression were reported at a similar rate at follow up as had been reported at treatment admission. 相似文献
96.
97.
98.
MR spectrum in spinal dysraphism 总被引:1,自引:0,他引:1
Spinal dysraphism is a general term which encompasses a wide variety of anomalies of the spine, all of which result from
imperfect midline fusion of the embryonic neural tube. This term refers to large defects that involve the spine and not to
small vertical clefts commonly seen within the spinal process of L5 or S1. We present a spectrum of MR imaging findings selected
from a retrospective review of 100 patients of spinal dysraphism evaluated at our institution.
Received: 18 May 2000 Revised: 13 July 2000 Accepted: 13 July 2000 相似文献
99.
Mandal AK Singh VP Gulati AK Sunder S Mohapatra SC Gupta KK Matah SC Rai M 《The Journal of the Association of Physicians of India》2000,48(3):288-289
Human Immunodeficiency Virus (HIV) infection is rising rapidly in the eastern Uttar Pradesh; however no data is available regarding its positivity rate. We have screened 1239 cases of various groups. HIV seropositivity rate of 0.28% was noted. These results suggest that HIV infection is spreading rapidly in this part of the country. M. tuberculosis was the commonest co-infection amongst them (29.5%). We recommend routine HIV screening of all patients of tuberculosis, especially if the persons frequent the cities, visit foreign countries where sex tourism is encouraged or stay away from their spouses for long periods as true history of sexual contact with commercial sex workers was difficult to obtain from them. 相似文献
100.
Intravenous pulse cyclophosphamide--a new regime for steroid resistant focal segmental glomerulosclerosis 总被引:3,自引:0,他引:3
OBJECTIVE: A prospective study was conducted to evaluate the role of intravenous pulse cyclophosphamide (IVCP) infusions in the management of children with steroid resistant (SR) idiopathic focal segmental glomerulosclerosis (FSGS). METHODS: The study group comprised of 20 consecutive children with idiopathic nephrotic syndrome secondary to FSGS who were SR. All of them were subjected to standard baseline investigations. They were started on monthly infusions of IVCP in a dose of 500-750 mg/m2. Adjunctive prednisolone was given in a dose of 60 mg/m2/day for 4 weeks followed by 40 mg/m2/alternate day for another 4 weeks and tapered off over next 4 weeks. RESULTS: The study group comprised of 15 boys and 5 girls with mean age of onset of disease of 5.5 +/- 3.5 years. Two of these children had chronic renal insufficiency prior to starting therapy. At the end of the study, after a mean duration of disease (since onset of NS) of 77 +/- 55 months, all 20 children had normal renal functions. After a mean follow up post IVCP therapy of 21.2 +/- 13.4 months, 13 of the 20 children (65%) had attained a complete remission. Of these, 10 children were infrequent relapsers, 2 frequent relapsers and 1 steroid dependent. The mean duration of remission following last dose of IVCP in these children was 12.5 +/- 11.9 months. Of the 7 children who continued to be proteinuric, 3 became edema free and have not required any albumin infusion or diuretics. One other died due to peritonitis 2 years after the last dose of IVCP. The mean total protein and serum albumin levels following the IVCP infusion were significantly higher than those prior to therapy (6.5+/-1.0 mg/dl Vs 5.0+/-0.8) (p=0.0004) and (3.5+/-0.7 g/dl Vs 2.3+/0.7) (p = 0.000007) respectively. The serum creatinine levels following IVCP therapy (0.8+/-0.2 mg/dl) were significantly lower than those prior to treatment (1.0+/-0.6 mg/dl) (p=0.02). The only side effects that were observed were transient nausea and vomiting during infusion (n=2) and alopecia (n=1). None of the children developed leukopenia or hemorrhagic cystitis. CONCLUSION: IVCP infusions appear to be safe, effective and economical therapeutic modality in steroid resistant children with idiopathic FSGS. 相似文献