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排序方式: 共有513条查询结果,搜索用时 31 毫秒
121.
LJ Logie RJ Gibbons DR Higgs JK Brown ME Porteous 《Archives of disease in childhood》1994,70(5):439-440
A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations. 相似文献
122.
HA Davies E Didcock M Didi A Ogilvy-Stuart JK Wales SM Shalet 《Archives of disease in childhood》1994,70(6):472-475
The effect of combination chemotherapy and cranial irradiation on final height and body proportions was retrospectively examined in a cohort of 142 children treated for acute lymphoblastic leukaemia (ALL). Eighty four children (48 girls, 36 boys) received 24 Gy cranial irradiation and 58 (35 girls, 23 boys) 18 Gy. None had received testicular or spinal irradiation. A significant reduction in standing height SD score from diagnosis to final height was seen in all groups. Of the 109 children in whom sitting height measurements were available, 88 (81%) had relatively shorter backs than legs and in 25 (23%) this disproportion was of a marked degree. After mathematical correction for sitting height loss there was no longer a significant reduction in standing height SD score at final height in all except the 24 Gy group of girls. These data suggest that disproportion is a common finding after treatment for ALL and that, at least in some children, much if not all of the height loss seen is due to a reduction in sitting height. Possible explanations for this disproportion include a disturbance of puberty or an effect of chemotherapy on spinal growth, or both. 相似文献
123.
CJ Bacon JD Cranage AM Hierons MD Rawlins JK Webb 《Archives of disease in childhood》1981,56(11):836-840
Mothers of 56 children under 2 years old taking phenobarbitone and mothers of 55 children taking phenytoin recorded on questionnaires changes they had noted in the children's behaviour 3 and 9 weeks after starting the drug. Severe behavioural disturbance was noted by many, but the pattern and incidence was similar to that recorded by the mothers of 50 children starting a placebo, and we attribute it to the effect of a recent hospital admission. There was a small improvement in the behaviour of 20% of children who had been taking phenobarbitone for a year when they stopped it, but in this age group the disturbance caused by phenobarbitone did not appear to have been great. 相似文献
124.
Rowlett JK 《Experimental and clinical psychopharmacology》2005,13(3):187-9; discussion 194-9
The review article "Regulation of Drug Taking by Sensitization and Habituation" by F. K. McSweeney, E. S. Murphy, and B. P. Kowal introduces 2 basic principles of behavior, sensitization and habituation, into a comprehensive model for studying drug intake and drug addiction. A key assumption of the model is that the reinforcing effectiveness of drugs sensitize and/or habituate; however, issues with the measurement of reinforcing effectiveness should be carefully considered. In addition, a multidisciplinary approach might broaden this model and increase its power. Other approaches include, but are not limited to, pharmacokinetic-pharmacodynamic modeling and in vivo measures of brain activity. 相似文献
125.
Rationale and objectives: The role of benzodiazepine (BZ) receptor mechanisms in modulating the stimulus effects of the BZ partial inverse agonist ethyl-β-carboline-3-carboxylate
(β-CCE) are not well understood. The purpose of the present experiments was to assess the role of BZ and non-BZ receptor stimulation
in the discriminative stimulus effects of β-CCE in rats. Methods: Adult male rats were trained to discriminate either a relatively high dose (10 mg/kg, n=8) or a relatively low dose (5.0 mg/kg, n=7) of β-CCE from saline under a fixed-ratio 10 schedule of food presentation. Results: Under the high-dose training condition, β-CCE engendered an increase in responding on the drug-paired lever up to 100% drug-lever
responding, with no decrease in response rate. Diazepam, pentobarbital, flumazenil, (+)-amphetamine, and morphine did not
share stimulus effects with 10 mg/kg β-CCE up to doses that suppressed rate of responding. The BZ full inverse agonist dimethoxy-4-ethyl-β-carboline-3-carboxylate
also did not engender ≥80% β-CCE-lever responding up to doses that suppressed response rate and produced seizures in some
animals. The BZ partial inverse agonists Ro 15-4513 and sarmazenil fully reproduced the stimulus effects of β-CCE. Flumazenil
antagonized the effects of β-CCE with an in vivo apparent pA2 value of 6.1 (slope=–0.86). Under the low-dose condition, β-CCE engendered an increase in drug-lever responding, with no changes
in response rate. In contrast to the high-dose condition, diazepam, pentobarbital, and (+)-amphetamine engendered high levels
of β-CCE-lever responding (up to 77, 96, and 75%, respectively), whereas flumazenil and morphine did not engender full β-CCE-
lever responding. Conclusions: These results indicated that the stimulus effects of the high dose of β-CCE appeared consistent with mediation by the drug’s
partial inverse agonist effects at BZ receptors. The discriminative stimulus effects of β-CCE at the lower training dose,
however, appeared to be relatively non-specific.
Received: 12 November 1998 / Final version: 15 March 1999 相似文献
126.
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) 总被引:1,自引:1,他引:1
Kelsell DP; Risk JM; Leigh IM; Stevens HP; Ellis A; Hennies HC; Reis A; Weissenbach J; Bishop DT; Spurr NK; Field JK 《Human molecular genetics》1996,5(6):857-860
Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar
ectodermal dysplasia type III) is associated with oesophageal cancer in
three families: two large pedigrees located in Liverpool, UK and in the
midwestern American states and one smaller family from Germany. In these
families, the PPK is inherited as autosomal dominant and has a late onset,
usually manifesting between 7 and 8 years of age. The disease is
characterised by thickening of the pressure areas of the soles, but is not
restricted to the feet and also presents with oral leukokeratosis and
follicular hyperkeratosis. The disease locus [previously termed the
"tylosis oesophageal cancer gene' (TOC) locus] has been mapped to
17q23-qter by linkage analysis. This region is located telomeric to the
keratin 16 gene, in which mutations have been identified in focal PPK
families who show no increased cancer risk. We describe the close mapping
of this locus to the interval between AFMb054zf9 and D17S1603 using
haplotype analysis of additional Genethon markers in the region and show
that although the American family is unlikely to be related to either of
the other two, the UK and German pedigrees may share a common descent. This
work provides a basis for positional cloning and candidate gene analysis in
order to identify a gene that may be involved in familial oesophageal
cancer.
相似文献
127.
AJIW Bergman IET van den Berg W Brink BT Poll-The JK Ploos van Amstel R Berger 《Human mutation》1998,12(1):19-26
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH). To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype–phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients. Mutation screening was performed by PCR amplification of exons 1-14 of the FAH gene, followed by SSCP analysis and direct sequencing of the amplified exons. Fourteen different mutations were found, of which seven were novel, viz. Three missense mutations (G158D, P261L, F405H), a deletion of three nucleotides causing a deletion of serine (DEL366S) and three splice site mutations: IVS2+1(g-t), IVS6-1(g-c), IVS8-1(g-c). The splice site mutations IVS6-1(g-t) and IVS12+5(g-a) were frequently found in countries around the Mediterranean and northerwestern Europe, respectively. No clear correlation between the genotype and the three major HT1 subtypes could be established. Hum Mutat 12:19–26, 1998. © 1998 Wiley-Liss, Inc. 相似文献
128.
129.
130.
In three experiments, male Wistar rats (250–350 g) were injected (SC) daily with the D1-type dopamine receptor agonist, SKF 38393 (0.0, 4.0, 8.0, or 16.0 mg/kg), the D2-type dopamine receptor agonist, quinpirole (0.0, 0.3, or 3.0 mg/kg), and/or the D1-type dopamine receptor antagonist, SCH 23390 (0.0 or 0.5 mg/kg) for 8–10 days. After each daily injection, the rats were tested for locomotor activity in photocell arenas for 20 min. Following this subchronic pretreatment, all rats were challenged with the mixed dopamine receptor agonist apomorphine (1.0 mg/kg, SC) and tested for locomotor activity. SKF 38393 treatments produced a dose-dependent decrease in locomotor activity which did not significantly change across days. Quinpirole also depressed locomotor activity when first injected, but this quinpirole-induced inhibition of activity progressively decreased across days. When subsequently challenged with apomorphine, rats in both the SKF 38393 and the quinpirole pretreatment groups displayed greater locomotor activity than rats pretreated with only vehicle. Although SCH 23390 pretreatments did not affect subsequent sensitivity to apomorphine, SCH 23390 completely blocked the effect of quinpirole. These results suggest that although repeated D1 receptor stimulation may be sufficient to induce behavioral sensitization to apomorphine, D2 receptor stimulation also contributes to the effect.Portions of this paper were presented at the 1991 Society for Neuroscience meetings, New Orleans, La, USA. 相似文献