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Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Elleuch N Bouslam N Hanein S Lossos A Hamri A Klebe S Meiner V Birouk N Lerer I Grid D Bacq D Tazir M Zelenika D Argov Z Durr A Yahyaoui M Benomar A Brice A Stevanin G 《Neurogenetics》2007,8(4):307-315
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome. The locus for this form of HSP, designated SPG15, was mapped to an interval of 19 cM on chromosome 14q22-q24 in two Irish families. We performed a clinical-genetic study of this form of HSP on 147 individuals (64 of whom were affected) from 20 families with AR-HSP. A genome-wide scan was performed in three large consanguineous families of Arab origin after exclusion of linkage to several known loci for AR-HSP (SPG5, SPG7, SPG21, SPG24, SPG28, and SPG30). The 17 other AR-HSP families were tested for linkage to the SPG15 locus. Only the three large consanguineous families showed evidence of linkage to the SPG15 locus (2.4 > Z (max) > 4.3). Recombinations in these families reduced the candidate region from approximately 16 to approximately 5 Mbases. Among the approximately 50 genes assigned to this locus, two were good candidates by their functions (GPHN and SLC8A3), but their coding exons and untranslated regions (UTRs) were excluded by direct sequencing. Patients had spastic paraplegia associated with cognitive impairment, mild cerebellar signs, and axonal neuropathy, as well as a thin corpus callosum in one family. The ages at onset ranged from 10 to 19 years. Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus. 相似文献
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Apolipoprotein E and angiotensin-converting enzyme gene polymorphisms as risk factors of coronary disease 总被引:3,自引:0,他引:3
Bennouar N Allami A Laraqui A Azeddoug H El-Kadiri N Benkouka F Bendriss A Ghannam R Benomar A Fellat S Benomar M 《Annales de biologie clinique》2004,62(3):295-304
The objective of this study was to test the hypothesis that apo E (RFLP, HhaI) and/or angiotensin-converting enzyme (ACE) (ins16del) are associated with higher risk for coronary heart disease. We investigated 250 patients who underwent complete cardiac examination comprising coronary angioplasty and biological analysis (CT, HDLc, LDLc, TG, apo A and apo B). Prevalence of the alleles of apo E and ACE was assessed by molecular analysis. Patients without stenosis or with non-significant stenosis (> 50% of the vascular lumen) were used as reference group (141 patients). Those presenting a significant stenosis of the coronary artery (. 50% of the vascular lumen) were considered as cases (109 patients). The relative frequency of the e 4 allele was significantly higher in cases than in reference group (p > 0.02). A strong association have been found between coronary heart disease and apo E polymorphism (2 = 8.91; p > 0.05). The presence of the e 4 allele increase the risk of atherosclerosis (RR = 2.71; IC95%: 1.25-5.90; p > 0.02) compared to e 3 allele. Also, subjects with D allele were more frequent in cases than in reference group (p > 0.001). A significant association was noted between ACE polymorphism and coronary heart disease (2 = 42.15; p > 0.001). This relationship was positive (rho de Spearman = 0.39; p > 0.01). With D/D homozygotes patients, the RR for coronary heart disease was 19.10 (p > 0.001), while The RR with I/D heterozygotes was 6.91 (p > 0.001) compared to I/I homozygotes. A significant interaction have been shown up between D/D genotype and arterial hypertension (HTA) (2 de Wald = 16.10; p > 0.001). The multivariate analysis showed that the chronic smoking, diabetes, hypoapolipoproteinemia A, interactive effects between D/D and HTA, I/D and obesity, and between D/D and hypertriglyceridemia were the major significant factors to take into consideration in our population. We also note that subjects with both D and e 4 alleles were presenting a high risk to coronary heart disease (RR = 5.93; IC95%: 2.00-17.55; p > 0.01). Thus, those two alleles (4 and D) appears to be important cardiovascular risk factors in the moroccan population. 相似文献
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Two-dimensional electrophoresis (2D-PAGE) of metabolically labeled adrenocortical proteins, identified a series of spots at a molecular size of 90 kDa [isoelectric point (pI) 6.8-7.1; p90] that was induced by ACTH, but whose intensity was reduced in cells obtained from animals treated with an extract of Ginkgo biloba (EGb 761) and its purified component ginkgolide B (GKB). We have now identified p90. GKB (2 mg/kg x d, i.p.) was administered to rats for 8 d. Adrenocortical cells were prepared and stimulated with ACTH for 3 h. Cells obtained from saline-treated rats responded to ACTH by producing high amounts of corticosterone, an effect that was inhibited in cells obtained from GKB-treated animals. Samples were fractionated by 2D-PAGE and matrix-assisted laser desorption ionization mass spectrometry analysis of the p90 spots isolated from the gels revealed sequences sharing identity with the serotransferrin precursor protein. Further PCR screening of a rat adrenal cDNA library identified a sequence with a high degree of homology (79%) to serotransferrin precursor protein, and a lesser degree to rat transferrin (54%) and human melanotransferrin (32.8%). p90, in 2D-PAGE immunoblots, was also recognized by a monoclonal antibody raised against human 97-kDa melanotransferrin. Iron binding assays with rat adrenal cortex extracts further identified a 90-kDa melanotransferrin immunoreactive protein binding iron, suggesting that the identified protein, which we name "adrenotransferrin," may have iron-binding activity. This is the first report describing the presence of a serotransferrin precursor protein homolog belonging to the transferrin family and sharing epitopes with melanotransferrin in the adrenal, its induction by ACTH, and sensitivity to GKB. 相似文献
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Akhaddar A Zrara I Gazzaz M El Moustarchid B Benomar S Boucetta M 《Journal of neuroradiology. Journal de neuroradiologie》2003,30(2):121-126
Liponeurocytoma (lipomatous medulloblastoma) is an uncommon clinicopathologic entity. We report a case of cerebellar liponeurocytoma in an adult and attempt to better characterize this uncommon lesion. A 43-year-old woman presented with symptoms and signs of increased intracranial pressure and cerebellar dysfunction. CT and MRI showed a heterogeneous well-circumscribed mass in the left cerebellar hemisphere with hydrocephalus. Complete surgical excision of the tumor was accomplished through a suboccipital craniotomy. Pathological examination with immunohistochemical study revealed a medulloblastoma with neuronal, astrocytic and lipomatous differentiation. Postoperative radiation therapy was given. After surgery, the patient was followed up for a 16 month-period; symptoms improved dramatically and no evidence of tumor recurrence was found. Careful analysis of the histopathological and immunohistochemical studies correctly identifies liponeurocytoma (lipomatous medulloblastoma). To our knowledge, only 16 cases have been reported. Although this lesion appears to have a better prognosis than the conventional form of adult medulloblastoma, complete surgical removal with postoperative radiation therapy is recommended. 相似文献
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