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排序方式: 共有196条查询结果,搜索用时 15 毫秒
61.
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure 总被引:2,自引:0,他引:2
Pomponio RJ; Narasimhan V; Reynolds TR; Buck GA; Povirk LF; Wolf B 《Human molecular genetics》1996,5(10):1657-1661
Biotinidase is responsible for recycling the vitamin biotin from biocytin
that is formed after the proteolytic degradation of the biotin- dependent
carboxylases. We have identified a deletion/insertion mutation within exon
D of the human biotinidase gene in a child with biotinidase deficiency. The
mutation causes a frame shift and premature termination which are predicted
to result in a truncated protein. We propose that the mutation occurred
during DNA replication by either of two mechanisms. Both mechanisms involve
formation of a quasipalindromic hairpin loop in the template and
dissociation of DNA polymerase alpha. This mutation supports the formation
of palindromic structures as a possible cause of deletions in eukaryotes,
and supports the proposal, derived from in vitro studies, that polymerase
alpha may preferentially arrest or dissociate at specific template
sequences.
相似文献
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63.
二苯乙烯类化合物对蛋白激酶C的抑制作用 总被引:14,自引:0,他引:14
报道15种二苯乙烯类化合物对蛋白激酶C(PKC)活性的影响。其中从中药金雀根中分得的3种二苯乙烯类低聚体α-viniferin,kobophenol A 和 miyabenolC,它们抑制PKC的IC50分别为62.5,52.0和27.5μmol·L-1。另外6种含酚羟基的二苯乙烯化合物对PKC也显示不同程度的抑制作用,但当酚羟基全甲基化或全乙酰化后其抑制作用大大降低甚至消失。酶动力学研究证明miyabenolC对PKC的抑制作用属于非竞争性抑制。 相似文献
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ABSTRACT: Although most of what is known about the biology and function of arachidonic acid metabolites comes from the study of mammalian biology, these compounds can also be produced by lower eukaryotes, including yeasts and other fungi. It is also in this group of organisms that the least is known about the metabolic pathways leading to the production of these compounds as well as the functions of these compounds in the biology of fungi and yeasts. This review will deal with the discovery of oxylipins from polyunsaturated fatty acids, and more specifically the arachidonic acid derived eicosanoids, such as 3-hydroxy eicosatetraenoic acid, prostaglandin F2alpha and prostaglandin E2, in yeasts starting in the early 1990s. This review will also focus on what is known about the metabolic pathways and/or proteins involved in the production of these compounds in pathogenic yeasts. The possible roles of these compounds in the biology, including the pathology, of these organisms will be discussed. 相似文献
66.
Analysis with antiidiotype antibody of a patient with chronic lymphocytic leukemia and a large cell lymphoma (Richter's syndrome) 总被引:1,自引:0,他引:1
Bertoli LF; Kubagawa H; Borzillo GV; Mayumi M; Prchal JT; Kearney JF; Durant JR; Cooper MD 《Blood》1987,70(1):45-50
A murine monoclonal antibody made against an idiotypic determinant (Id) of surface IgM/IgD lambda molecules on chronic lymphocytic leukemia (CLL) cells of a 71-year-old woman was used for clonal analysis by two- color immunofluorescence. The anti-Id antibody identified IgM+/IgD+/lambda+ B cells as the predominant cell type of her CLL clone. In addition, substantial proportions of the IgG and IgA B cells and most of the IgM plasma cells in her bone marrow and blood were Id+. Six years after diagnosis, the patient died of respiratory failure due to infiltration of lungs by malignant cells. Autopsy revealed a dramatic change in the tumor cell morphology. The lungs, hilar nodes, and liver were infiltrated by a diffuse large cell lymphoma admixed with the leukemic cells. By immunohistologic staining these anaplastic lymphoma cells were IgM+/IgD-/lambda+ B cells expressing the same Id noted earlier on the CLL cells. The immunoglobulin gene rearrangement pattern on Southern blot analysis was also the same in leukemic blood cells and in the tissues involved by the lymphoma. Thus, the combination of antiidiotype and immunoglobulin gene analyses in this patient with Richter's syndrome revealed that a CLL clone, seemingly "frozen" in differentiation, was actually undergoing isotype switching, differentiation into plasma cells, and evolution into a rapidly growing and fetal lymphoma. 相似文献
67.
A Timmermans S Veersema TC van Kerkvoorde LF van der Voet BC Opmeer MY Bongers BWJ Mol 《BJOG : an international journal of obstetrics and gynaecology》2009,116(10):1391-1395
We describe the design of a randomised controlled trial to evaluate the efficacy of endometrial polyp removal in women with postmenopausal bleeding. We designed a trial in which patients with postmenopausal bleeding and endometrial thickness >4 mm undergo hysteroscopy. If during hysteroscopy an endometrial polyp was diagnosed, patients were asked to participate in this trial and after informed consent allocated to immediate removal of the polyp or expectant management. This trial suffered from lack of recruitment related both to doctors seeking for informed consent as well as to patients' unwillingness to participate in this trial. However, a randomised controlled trial on this subject is still necessary to evaluate the efficacy of uterine cavity evaluation in the diagnostic work-up of women with postmenopausal bleeding, focussing on benign pathology. Therefore, we propose an alternative design, which might be more feasible. 相似文献
68.
RG Strauss ; LF Burmeister ; K Johnson ; T James ; J Miller ; DG Cordle ; EF Bell ; GA Ludwig 《Transfusion》1996,36(10):873-878
BACKGROUND: Despite recent optimism about the use of erythropoietin therapy to treat the anemia of prematurity, very-low-birth-weight infants who are severely ill receive multiple red cell (RBC) transfusions. Many physicians transfuse relatively fresh RBCs to newborn infants, exposing them to multiple donors and possibly increasing their risk of acquiring transfusion-transmitted infections. STUDY DESIGN AND METHODS: A randomized, single-blind clinical trial was conducted to determine, as the primary endpoint, whether RBCs collected from one dedicated donor and stored for < or = 42 days in AS-1 storage media could safely supply all small-volume RBC transfusions (15 mL/kg/dose) needed by very-low-birth-weight infants (0.6-1.3 kg) during the first 84 days of life. Secondary endpoints were the assessment of the possible adverse clinical and biochemical effects of transfusing AS- 1 RBCs stored for < or = 42 days. Control infants received identical nursery care, except they received fresh RBCs stored < or = 7 days in CPDA-1. RESULTS: Infants transfused with AS-1 RBCs were exposed to a mean of 1.6 donors,-compared with an exposure to 3.7 donors for infants given CPDA-1 RBCs (p < 0.05). Neither clinical transfusion reactions nor the results of multiple laboratory tests were significantly different in infants who received slow transfusions (15 mL/kg) of AS-1 RBCs stored for < or = 42 days and in infants who received the same volume of CPDA-1 RBCs stored < or = 7 days. CONCLUSION: AS-1 RBCs, usually from only one dedicated donor, can safely supply all RBCs needed by most very-low-birth-weight infants-a practice that decreases donor exposure and likely increases transfusion safety. 相似文献
69.
Small lesions in the heart identified at electron beam CT: calcification or noise? 总被引:11,自引:0,他引:11
Bielak LF; Kaufmann RB; Moll PP; McCollough CH; Schwartz RS; Sheedy PF nd 《Radiology》1994,192(3):631
70.