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A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands 总被引:9,自引:4,他引:5
A non-progressive recessive cerebellar ataxia was identified in a highly
inbred Cayman island population. Cayman cerebellar ataxia is characterized
by marked psychomotor retardation, and prominent cerebellar dysfunction
manifested by nystagmus, intention tremor, dysarthric speech, and an ataxic
gait. In this study, we identify linkage to chromosome 19p 13.3 using
pooled DNA samples of affected individuals from an isolated population as
PCR template for a genome wide screen with short tandem repeat markers. Our
data demonstrate that the DNA pooling approach to identify disease gene
loci is feasible using individuals from isolated populations in which
kindred relationships are highly complex and exact relationships between
all affected individuals are not known. Genetic fine mapping demonstrates
that the genetic disease interval is approximately 9 cM, but contained
within a small physical region. The existence of multiple individuals that
are recombinant with flanking markers indicates that the disease interval
can be further narrowed with additional markers.
相似文献
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Packed red cell units (n = 10) were filtered and divided equally. One-half unit from each donor was irradiated (x) (3500 cGy). On Days 0, 14, 28, and 42, ATP, K+, Na+, lactate dehydrogenase (LDH), plasma-free hemoglobin (PFH), and pH were determined. The reduction in ATP was greater in the irradiated than the nonirradiated (y) units by Day 42 (mean x-y: -70, p = 0.0005). The increase in K+ was greater in the irradiated than nonirradiated units on Days 14, 28, and 42 (mean x-y: 17-20, p = 0.0001). Decrease in pH and increases in LDH and PFH were significant (p less than 0.05) on Day 42 only. K+ increases added only 1.7 to 2.0 mmol per unit, a difference felt to be clinically insignificant. The changes noted in ATP, pH, LDH, and PFH are significant but minimal on Day 42 and imply that viability changes would also be minimal. These biochemical data support the storage of irradiated units for at least 28 days. 相似文献
126.
Unilateral hypertrophic osteoarthropathy in a patient with an infected axillary-axillary bypass graft 总被引:1,自引:0,他引:1
Hypertrophic osteoarthropathy (HO) is a specific clinicoradiologic entity, the most common cause of which is the presence of pulmonary lesions. Eight cases of aortic graft infection and aortoenteric fistulae in association with HO have been recognized. A case of an infected axillary-axillary graft presenting as unilateral HO of the upper limb is reported, and its unusual features are used to postulate a mechanism underlying HO. 相似文献
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Assessments and clinical understanding of late-onset delusions in the elderly are inconsistent and often incomplete. In this review, we consider the prevalence, neurobehavioral features, and neuroanatomic correlations of delusions in elderly persons – those with documented cognitive decline and those with no evidence of cognitive decline. Both groups exhibit a common phenotype: delusions are either of persecution or of misidentification. Late-onset delusions show a nearly complete absence of the grandiose, mystical, or erotomanic content typical of early onset psychoses. Absent also from both elderly populations are formal thought disorders, thought insertions, and delusions of external control. Neuroimaging and behavioral studies suggest a frontotemporal localization of delusions in the elderly, with right hemispheric lateralization in delusional misidentification and left lateralization in delusions of persecution. We propose that delusions in the elderly reflect a common neuroanatomic and functional phenotype, and we discuss applications of our proposal to diagnosis and treatment. 相似文献
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EA Mitchell BJ Taylor RP Ford AW Stewart DM Becroft JM Thompson R Scragg IB Hassall DM Barry EM Allen 《Archives of disease in childhood》1993,68(4):501-504
The association between dummy use and sudden infant death syndrome (SIDS) was investigated in 485 deaths due to SIDS in the postneonatal age group and compared with 1800 control infants. Parental interviews were completed in 87% of subjects. The prevalence of dummy use in New Zealand is low and varies within New Zealand. Dummy use in the two week period before death was less in cases of SIDS than in the last two weeks for controls (odds ratio (OR) 0.76, 95% confidence interval (CI) 0.57 to 1.02). Use of a dummy in the last sleep for cases of SIDS or in the nominated sleep for controls was significantly less in cases than controls (OR 0.44, 95% CI 0.26 to 0.73). The OR changed very little after controlling for a wide range of potential confounders. It is concluded that dummy use may protect against SIDS, but this observation needs to be repeated before dummies can be recommended for this purpose. If dummy sucking is protective then it is one of several factors that may explain the higher mortality from SIDS in New Zealand than in other countries, and may also explain in part the regional variation within New Zealand. 相似文献
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AM Elliman EM Bryan AD Elliman DR Harvey 《Acta paediatrica (Oslo, Norway : 1992)》1992,81(10):836-839
Correction for gestational age continues to make a difference to the height SD score (SDS) to the age of seven years in very preterm babies. The height SDS for children born at 28 weeks' gestation increased by 0.25 SDS when postconceptual age was used instead of real age. Extrapolating from these results, the effect of correction would be an increase of approximately 0.32 SDS for a seven-year-old of 24 weeks' gestation. Unsatisfactory growth may be masked by a steady or increasing real age SDS in a few children. The risks of stopping using postconceptual age at two or three years include both false confidence in genuine cases of growth retardation and misinterpretation of a decrease in height SDS as evidence of growth retardation. As the number of very preterm babies who survive increases so does the importance of these observations. 相似文献