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1.
Arbour NC; Zlotogora J; Knowlton RG; Merin S; Rosenmann A; Kanis AB; Rokhlina T; Stone EM; Sheffield VC 《Human molecular genetics》1997,6(5):689-694
Achromatopsia is an autosomal recessive disease of the retina,
characterized clinically by an inability to distinguish colors, impaired
visual acuity, nystagmus and photophobia. A genome-wide search for linkage
was performed using an inbred Jewish kindred from Iran. To facilitate the
genome-wide search, we utilized a DNA pooling strategy which takes
advantage of the likelihood that the disease in this inbred kindred is
inherited by all affected individuals from a common founder. Equal molar
amounts of DNA from all affected individuals were pooled and used as the
PCR template for short tandem repeat polymorphic markers (STRPs). Pooled
DNA from unaffected members of the kindred was used as a control. A
reduction in the number of alleles in the affected versus control pool was
observed at several loci. Upon genotyping of individual family members,
significant linkage was established between the disease phenotype and
markers localized on chromosome 2. The highest LOD score observed was 5.4
(theta = 0). When four additional small unrelated families were genotyped,
the combined peak LOD score was 8.2. Analysis of recombinant chromosomes
revealed that the disease gene lies within a 30 cM interval which spans the
centromere. Additional fine-mapping studies identified a region of
homozygosity in all affected individuals, narrowing the region to 14 cM. A
candidate gene for achromatopsia was excluded from this disease interval by
radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an
essential first step in the identification of the disease-causing gene.
相似文献
2.
Meurisse M Gollogly L Degauque C Fumal I Defechereux T Hamoir E 《World journal of surgery》2000,24(11):1377-1385
Thyrotoxicosis is the clinical syndrome that results when tissues are exposed to high levels of circulating thyroid hormones.
In most instances thyrotoxicosis is due to hyperthyroidism, a term reserved for disorders characterized by overproduction
of thyroid hormones by the thyroid gland. Nevertheless, thyrotoxicosis may also result from a variety of conditions other
than thyroid hyperfunction. The present report focuses on the etiologies, pathophysiology, and treatment of iatrogenic thyrotoxicosis. Iatrogenic thyrotoxicosis may be caused by (1) subacute thyroiditis (a result of lymphocytic infiltration,
cellular injury, trauma, irradiation) with release of preformed hormones into circulation; (2) excessive ingestion of thyroid
hormones (“thyrotoxicosis factitia”); (3) iodine-induced hyperthyroidism (radiologic contrast agents, topical antiseptics,
other medications). Among these causes of iatrogenic thyrotoxicosis, that induced by the iodine overload and cytotoxicity
associated with amiodarone represents a significant challenge. Successful management of amiodarone-induced thyrotoxicosis
requires close cooperation between endocrinologists and endocrine surgeons. Surgical treatment may have a leading yet often
underestimated role in view of the potential life-threatening severity of this disease, whereas others kinds of iatrogenic
thyrotoxicosis are usually treated conservatively. 相似文献
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5.
In vivo expression of the B7 costimulatory molecule by subsets of antigen-presenting cells and the malignant cells of Hodgkin's disease 总被引:10,自引:0,他引:10
Munro JM; Freedman AS; Aster JC; Gribben JG; Lee NC; Rhynhart KK; Banchereau J; Nadler LM 《Blood》1994,83(3):793-798
The B-lymphocyte/accessory-cell activation antigen B7 (BB1) has been shown in vitro to stimulate T-lymphocyte proliferation and cytokine production via CD28 present on the latter cells. In this study, benign lymphoid tissues, lymphomas, and extralymphoid inflammatory sites were examined immunohistochemically using anti-B7 and other relevant monoclonal antibodies. B7 was expressed by benign transformed germinal center B cells, as it was by B cells of follicular lymphomas. B7 was also expressed by a subpopulation (a mean of 31% to 65%) of macrophages and dendritic cells in a variety of lymphoid tissues. It was present in abundance on all macrophages constituting sarcoid granulomas in lymph nodes. In extralymphoid inflammation, 17% to 35% of macrophages expressed B7 only weakly. Cases of Hodgkin's disease showed expression of B7 by the majority of Reed-Sternberg cells or malignant mononuclear variants, a phenomenon that potentially contributes to the lymphocytic accumulation that is a feature of this condition. CD28+ T cells were seen in all areas where T cells were present. B7+ and CD28+ cells colocalized in, for example, lymphoid follicles, lymph node paracortex, sarcoid granulomas, and Hodgkin's disease tissue, indicating a potential for cellular interaction via these molecules at these sites. 相似文献
6.
STUDY DESIGN: An in vitro biomechanical study using a simulated cervical corpectomy model to compare the load-sharing properties and stiffnesses of two static and two dynamic cervical plates. OBJECTIVES: To evaluate the load-sharing properties of the instrumentation with a full-length graft and with 10% graft subsidence and to measure the stiffness of the instrumentation systems about the axes of flexion-extension, lateral bending, and axial torsion under these same conditions. SUMMARY OF BACKGROUND DATA: No published reports comparing conventional and dynamic cervical plates exist. METHODS: Six specimens of each of the four plate types were mounted on ultra-high molecular weight polyethylene-simulated vertebral bodies. A custom four-axis spine simulator applied pure flexion-extension, lateral bending, and axial torsion moments under a constant 50 N axial compressive load. Load sharing was calculated through a range of applied axial loads up to 120 N. The stiffness of each construct was calculated in response to +/-2.5 Nm moments about each axis of rotation with a full-length graft, a 10% shortened graft, and no graft. ANOVA and Fisher's post hoc test were used to determine statistical significance (alpha < or = 0.05). RESULTS: The two locked cervical plates (CSLP and Orion) and the ABC dynamic plate were similar in flexion-extension, lateral bending, and torsional stiffness. The DOC dynamic plate was consistently less stiff. The Orion plate load shared significantly less than the other three plates with a full graft. Both the ABC and the DOC plates were able to load share with a shortened graft, whereas the conventional plates were not. CONCLUSIONS: All plates tested effectively load share with a full-length graft, whereas the two dynamic cervical plates tested load share more effectively than the locked plates with simulated graft subsidence. The effect of dynamization on stiffness is dependent on plate design. 相似文献
7.
8.
NC de Bruin KA van Velthoven M de Ridder T Stijnen RE Juttmann HJ Degenhart HK Visser 《Archives of disease in childhood》1996,74(5):386-399
Data on body composition in conjunction with reference centiles are helpful in identifying the severity of growth and nutritional disorders in infancy and for evaluating the adequacy of treatment given during this important period of rapid growth. Total body fat (TBF) and fat-free mass (FFM) were estimated from total body electrical conductivity (TBEC) measurements in 423 healthy term Caucasian infants, aged 14-379 days. Cross sectional age, weight, and length related centile standards are presented for TBF and FFM. Centiles were calculated using Altman's method, based on polynomial regression and modelling of the residual variation. The TBF percentage steeply increased during the first half year of life, and slowly declined beyond this age. Various simple TBEC derived anthropometric prediction equations for TBF and FFM are available to be used in conjunction with these standards. Regression equations for the P50 and the residual SD, depending on age, weight, or length, are provided for constructing centile charts and calculating standard deviation scores. 相似文献
9.
The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers 总被引:5,自引:0,他引:5
J Zschocke CA Graham JJ McKnight NC Nevin 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):41-42
We present a simple, fast, non-radioactive method for the analysis of the polymorphic short tandem repeat (STR) system in the human phenylalanine hydroxylase gene. Previously, sizing of the STR marker involved radiolabelling of PCR amplified fragments and resolution on denaturing polyacrylamide gels using M13 sequencing ladder as a standard. However, this method consistently gave sizes 2 bp longer than the known sequence. The fluorescent method presented here employs internal lane standards and enables accurate sizing of the fragments. To avoid confusion, we suggest that the true fragment lengths are used as reference values in the future. The analysis of STR alleles is valuable for population genetic studies and for targeted mutation screening in phenylketonuria (PKU). It can replace RFLP-based haplotype analysis for carrier detection, and we report its use for prenatal diagnosis in a Northern Irish family with PKU. The analysis of 250 Northern Irish chromosomes, including 128 PKU alleles, showed no significant difference between normal and PKU alleles, with fragment lengths of 238 and 242 bp most common in both groups. 相似文献
10.
TÜTÜNCÜOGLU SARENUR KANTAR MEHMET ÖZTÜRK VESILE YÜNTEN NILGÜN DUMAN YUSUF KULA SABAHATTIN ÖZGÜR TUGRUL 《Pediatrics international》1994,36(6):705-708
Moyamoya disease is a progressive disease which involves the internal carotid arteries and its branches bilaterally. The disease is reported both in adults and in children. Moyamoya disease is frequently seen in Japanese patients having certain human leucocyte antigen (HLA) haplotypes including HLA-Aw24, Bw46 and Bw54. Twin cases are rarely reported in the literature. We hereby present the first Turkish monozygotic twins with moyamoya disease whose HLA haplotypes are A2, A9, B21, Bw22, Bw4, Bw6, Cw3, and DR2, DR4, DRw52, DRw53, Dq7. The patients with advanced disease were given nifedipine and intravenous immunoglobulin (400mg/kg/d for 5 days). During the 11 months of follow-up, the patients were attack free. 相似文献