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Despite being the most common sarcoma of the gastrointestinal tract, gastrointestinal stromal tumor (GIST) has been widely recognized as a unique entity for just over a decade. The advent of tyrosine kinase inhibitors has revolutionized the diagnosis and treatment of GIST. Although surgery remains the only chance for cure, multimodal treatment that includes molecular therapy continues to develop. Optimal management of GIST requires careful radiographic, pathologic, medical, and surgical care, emphasizing the need for a multidisciplinary approach. This review highlights recent developments in the management of GIST. 相似文献
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A new variant of type II von Willebrand disease with aberrant multimeric structure of plasma but not platelet von Willebrand factor (type IIF) 总被引:2,自引:0,他引:2
A patient with a lifelong bleeding disorder was diagnosed as having Type II von Willebrand disease. The larger multimers of von Willebrand factor were absent from her plasma but present in platelets. A high- resolution electrophoretic technique was used to study the complex structure of individual von Willebrand factor multimers. In normal plasma, each multimer could be resolved into five bands: a more intense central one and four less intense, two moving faster and two slower than the central band. In normal platelets, each multimer could also be resolved into five bands. The central one had a mobility similar to that in plasma, whereas the four satellite bands had a mobility that differed from that of the corresponding plasma bands. In the patient, platelet von Willebrand factor antigen content and ristocetin cofactor activity were normal, and von Willebrand factor showed the same structure of individual multimers as seen in normal platelets. On the other hand, plasma von Willebrand factor antigen and ristocetin cofactor activity were decreased, and the structure of individual von Willebrand factor multimers was different from that of normal plasma and similar to that seen in normal and patient's platelets. After infusion of 1-deamino-8-D-arginine vasopressin, the largest von Willebrand factor multimers, as well as new satellite bands with a mobility similar to those in normal plasma, appeared in the patient plasma, and the levels of von Willebrand factor antigen and ristocetin cofactor activity became normal. Yet no relevant change in the prolonged bleeding time was observed. This new variant of von Willebrand disease, therefore, is characterized by the presence of a dysfunctional von Willebrand factor molecule that exhibits unique structural abnormalities in plasma but appears to be normal in platelets. The designation of Type IIF is proposed for this type of von Willebrand disease in accordance with the terminology that has been previously used. 相似文献
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The heterogeneity of type IIA von Willebrand's disease: studies with protease inhibitors 总被引:6,自引:0,他引:6
Batlle J; Lopez Fernandez MF; Campos M; Justica B; Berges C; Navarro JL; Diaz Cremades JM; Kasper CK; Dent JA; Ruggeri ZM 《Blood》1986,68(6):1207-1212
The absence of large von Willebrand factor (vWF) multimers from plasma is a characteristic of Type IIA von Willebrand's disease (vWD) and is thought to contribute to the clinical expression of this disorder. Recently, three IIA patients have been reported in whom intermediate and large multimers could be restored if blood were collected in 5 mm EDTA, 6 mmol/L N-ethylmaleimide, and 1 mmol/L leupeptin. This suggested that absence of large multimers resulted from in vitro proteolysis. We have now collected blood from ten Type IIA vWD patients in these inhibitors but were not able to detect large multimers in the plasma of any of them. In addition, intermediate-sized multimers were reduced or completely absent in all. The inclusion of inhibitors in the citrate anticoagulant, as compared to citrate alone, was found to increase the relative proportion of intermediate multimers in some patients but had no effect in others, and in none did it restore large multimers to plasma. The results with platelet vWF were more varied. Four patients showed an absence or decrease of large multimers, whereas in seven patients large multimers were present. When compared with citrate anticoagulant alone, the inclusion of inhibitors in the anticoagulant had little or no effect on the platelet multimeric pattern. 1-Deamino-8- D-Arginine Vasopressin (DDAVP) was administered to six patients from five families. Two patients from one family showed complete correction and a third patient showed almost complete correction of her bleeding time. Two patients showed minimal correction and one showed no detectable correction. An increase in multimer size after DDAVP tended to be associated with correction of the bleeding time. However, in no case did the largest multimers appear in plasma even in patients with complete bleeding time correction. The presence or absence of inhibitors in the anticoagulant had little or no effect on the multimeric pattern after DDAVP. These results indicate that Type IIA vWD is a heterogeneous disorder in which absence of largest and intermediate multimers is an in vivo phenomenon. 相似文献
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阿霉素脂质体肝动脉栓塞治疗大鼠肝癌的药效学研究 总被引:1,自引:1,他引:0
目的:观察阿霉素脂质体(Lip-ADM)碘油乳剂肝动脉栓塞治疗大鼠W256肝癌模型的疗效,并与阿霉素水溶液(ADM)及阿霉素加空白脂质体(Lip ADM)相比较。方法:建立大鼠移植性W256肝癌模型并随机分为四组,经肝动脉分别灌注生理盐水,ADM碘油乳剂,游离ADM 空白脂质体及Lip-ADM碘油乳剂,用高效液相色谱测定阿霉素在各器官中的含量。结果:与ADM及ADM 空白脂质体组相比:Lip-ADM组对肿瘤生长的抑制明显增加(P<0.05),治疗后的大鼠生存期亦明显延长(P<0.05),阿霉素在体内的分布以肝、脾组织为主。结论:阿霉素脂质体经肝动脉栓塞化疗可明显降低阿霉素毒副作用,提高治疗效果。 相似文献
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BY Choi ZM Ahmed S Riazuddin MA Bhinder M Shahzad T Husnain S Riazuddin AJ Griffith and TB Friedman 《Clinical genetics》2009,75(3):237-243
Mutations in OTOF , encoding otoferlin, cause non-syndromic recessive hearing loss. The goal of our study was to define the identities and frequencies of OTOF mutations in a model population. We screened a cohort of 557 large consanguineous Pakistani families segregating recessive, severe-to-profound, prelingual-onset deafness for linkage to DFNB9 . There were 13 families segregating deafness consistent with linkage to markers for DFNB9 . We analyzed the genomic nucleotide sequence of OTOF and detected probable pathogenic sequence variants among all 13 families. These include the previously reported nonsense mutation p.R708X and 10 novel variants: 3 nonsense mutations (p.R425X, p.W536X, and p.Y1603X), 1 frameshift (c.1103_1104delinsC), 1 single amino acid deletion (p.E766del) and 5 missense substitutions of conserved residues (p.L573R, p.A1090E, p.E1733K, p.R1856Q and p.R1939W). OTOF mutations thus account for deafness in 13 (2.3%) of 557 Pakistani families. This overall prevalence is similar, but the mutation spectrum is different from those for Western populations. In addition, we demonstrate the existence of an alternative splice isoform of OTOF expressed in the human cochlea. This isoform must be required for human hearing because it encodes a unique alternative C-terminus affected by some DFNB9 mutations. 相似文献
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绞股蓝总苷对老龄大鼠的抗氧化作用观察 总被引:7,自引:0,他引:7
目的:观察口服绞股蓝总苷对老龄大鼠的抗氧化作用。方法:测定药后大鼠红细胞超氧化物歧化酶(SOD)和全血谷胱甘肽过氧化物酶(GSH-Px)等抗氧化酶含量及肾上腺内维生素C(VitC)含量。结果:绞股蓝总苷40和20mg/kg连续用药20d能升高大鼠红细胞SOD和全血GSH-Px酶活力,且能降低大鼠肾上腺皮质中VitC含量。结论:绞股蓝总苷能增强老龄大鼠机体抗氧化能力及提高肾上腺皮质的功能。 相似文献