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51.
Harun?Do?ru Hasan?YasanEmail author Mustafa?Tüz 《European archives of oto-rhino-laryngology》2004,261(3):136-138
The nasal septum is composed of a perpendicular plate of ethmoid bone, quadrilateral septal cartilage, membraneous septum, crest of palatine and maxillary bone and vomer. Defects of the nasal septum may be due to a variety of causes such as trauma, infection, inhalant irritants and neoplasia. To our knowledge, up until now, congenital defect of the vomer has been presented in six cases without any nasal symptoms. We present two cases of congenital defect of vomer with thalassemia trait, the patients complaining of nasal obstruction. 相似文献
52.
Antierythropoietin antibodies in thalassemia patients 总被引:3,自引:0,他引:3
Voulgari PV Chaidos A Tzouvara E Alymara V Alamanos Y Drosos AA Bourantas KL 《Annals of hematology》2004,83(1):22-27
We evaluated sera from 58 thalassemic patients for the presence of antierythropoietin antibodies to investigate whether these autoantibodies may relate with modest response to treatment with recombinant human erythropoietin (rhEpo). Thirty-seven patients had -thalassemia major, 9 patients had -thalassemia intermedia, and 12 patients had sickle/+-thalassemia. Of 58 patients, 24 were on rhEpo treatment in order to increase the intervals between transfusions or the hemoglobin (Hb) values. The study population was divided into three groups according to rhEpo treatment. Group A consisted of 15 patients who were on rhEpo treatment (400–600 IU/kg three times per week, subcutaneously) showing an increase of Hb values or reduction of transfusion requirements. Group B included 9 patients who did not respond to rhEpo and group C consisted of 34 patients who did not receive rhEpo. Laboratory studies included a complete blood count, measurement of serum erythropoietin, immunological evaluation, and determination of antierythropoietin antibodies using enzyme-linked immunosorbent assay (ELISA). There were no significant differences among groups A, B, and C concerning age, Hb, and endogenous erythropoietin values. Fifteen patients had positive antinuclear antibodies and three patients had positive rheumatoid factor. Antierythropoietin antibodies were detected in the sera of seven patients (five men and two women) who received rhEpo. The male patients and one female patient had no response to rhEpo while the other female patient showed response when the dose increased. Other autoantibodies seem to have no clinical significance. In the present study, we detected for the first time in thalassemia patients the presence of antierythropoietin antibodies, which may contribute to rhEpo resistance. Thalassemia patients with low response rates to rhEpo should be evaluated for the presence of antierythropoietin antibodies. 相似文献
53.
Porcaro AB Novella G Antoniolli SZ Martignoni G Brunelli M Curti P 《International urology and nephrology》2001,33(4):601-603
The authors report on a rare pediatric case of adrenal extramedullary hematopoiesis in a patient with beta-thalassemia disease. The lesion was clinically discovered as incidentaloma of the right adrenal gland and treated by surgery. Adrenal extramedullary hematopoiesis may clinically be detected as incidentaloma. Adrenal incidentalomas presenting with hematologic disorders, such as agnogenic myeloid aplasia and beta-thalassemia, need careful imaging as well as adrenal hormonal investigation in order to exclude malignancy and sublinical hypersecretory syndromes. Ultrasound or CT-FNA of the lesion are effective in finding out the disease. 相似文献
54.
地中海贫血是由于血红蛋白的珠蛋白链合成受到部分或完全抑制所引起的一组遗传性溶血性贫血,重型及部分中间型地中海贫血多需反复输血治疗,可导致铁负荷过重,血色病,临床上可出现心肌病、充血性心力衰竭、肝硬化、糖尿病、关节炎、垂体功能减退等。轻型地中海贫血一般不需特殊治疗,比较关注的是其遗传学意义,但是机体铁负荷情况不甚明了,了解其铁负荷情况,对防治可能发生的高铁负荷危害有重要价值。 相似文献
55.
We describe a Chinese woman who was assumed to be a Hb Q-Thailand heterozygote, but was later also shown to have β-thalassemia (β-thal) with a normal amount of Hb A2. 相似文献
56.
新疆喀什地区血红蛋白病的研究 总被引:3,自引:0,他引:3
目的:研究新疆喀什地区血红蛋白病的发生及特点。方法:异常血红蛋白携带者调查采用微量电泳法。地中海贫血先证者筛查按两步筛选方案进行。异常血红蛋白的一级结构分析应用指纹分析技术完成。地中海贫血基因鉴定用PCR/ASO技术实施。结果:喀什地区异常血红蛋白平均发生率为0.8%,地中海贫血发生率为3.07%,两者均明显高于全国和新疆的平均水平。8例异常血红蛋白一级结构分析发现HbJTashikuergan[α19(AB1)Ala→Glu]和HbDPunjab[β121(GH4)Glu→Gln]两种变异体。10例β地中海贫血进行基因鉴定,确定了CD8(-AA)、CD8/9(+G)、CDs41/42(-TTCT)和IV-Ⅰ-5(G→C)等四种基因突变型。其中的HbJTashikuergan[α19(AB1)Ala→Glu]系世界首次报道,CD8(-AA)和CDs8/9(+G)为在中国人中首次发现。结论:对喀什地区血红蛋白病的研究表明,异常血红蛋白和地中海贫血的类型特点既有别于我国其它地区,又与邻近的中亚等国不完全相同,形成了该地区独有的遗传特征。 相似文献
57.
A. Belsito D. Costa S. Signoriello C. Fiorito I. Tartaglione M. Casale S. Perrotta K. Magnussen C. Napoli 《Transfusion and apheresis science》2019,58(1):65-71
Background
The development of alloantibodies may complicate the management of patients with β-thalassemia. An extended antigenic matching may reduce the risk of alloimmunization. Our previous study showed that the introduction of molecular red blood cell (RBC) typing allows finding suitable blood units for multi-transfused patients. The aim of this study was to evaluate the benefit of RBC transfusion with extended antigenic match.Materials and methods
At the University of Campania “L. Vanvitelli”, we selected β-thalassemia major patients (age ≤23 years), without preformed alloantibodies. Data of patients receiving transfusion of leukoreduced RBC units for a period of one year with partial better match (PBM) including ABO, RhD, C/c, E/e, K/k antigens and consecutive one year with extended match (EM) including ABO, RhD, C/c, E/e, K/k, Fya/Fyb, Jka/Jkb, M/N, S/s antigens, were compared.Results
Eighteen patients, 8 males and 10 females with a mean age of 15.4 years (6.4 SD) received a mean number of 41.2 (6.0 SD) RBC units transfused with PBM and 41.8 (6.2 SD) with EM protocols. After two years of RBC transfusions with both antigen matching protocols, no new alloantibodies were developed in patients. No significant differences in Hb concentration and volume of RBC transfused were found between PBM and EM protocols.Conclusions
Thalassemia patients may benefit from receiving RBC transfusions based on extended antigen matching as demonstrated by the lack of new alloantibodies. However, our data show a high concordance between PBM and EM protocols considering pre-transfusion Hb, increment of Hb and volume of RBC transfused. 相似文献58.
目的探讨红细胞MCV与RDW在初筛诊断珠蛋白生成障碍性贫血的应用价值。方法使用日本SYSMEX9000全自动血细胞分析仪,检测2526例体检人群标本,对红细胞参数MCV<80fl,RDW-CV11%~16%人群,进行珠蛋白生成障碍性贫血基因分析。结果2526例体检人群中,MCV<80fl,RDW-CV11%~16"6例,基因分析检测有220例有珠蛋白生成障碍性贫血异常基因,占初筛检测可疑人群的97.3%,其中α-珠蛋白生成障碍性贫血异常基因151例,占66.8%;β-珠蛋白生成障碍性贫血异常基因69例,占30.5%。结论红细胞MCV及RDW两种参数在初筛诊断珠蛋白生成障碍性贫血中有重要的应用价值。 相似文献
59.
Turan Bayhan Şule Ünal Eyüp Çırak Onur Erdem Cemal Akay Orhan Gürsel İbrahim Eker Erdem Karabulut Fatma Gümrük 《Transfusion and apheresis science》2017,56(4):539-543
Objectives
Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis.Methods
Blood levels of heavy metals including Pb, Al, Cd, Cr, Co, Cu, and Zn were measured in patients with thalassemia major (TM), thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age- and sex-matched healthy controls.Results
Blood samples were obtained from 68 patients (51 patients with TM, 8 with TI, 9 with CDA), and a control group that included 65 volunteers. Patients with TM were found to have lower Al, Pb, and Zn, and higher Cd levels compared with the control group. The patients treated with deferasirox were further analyzed and Pb and Zn levels were found lower compared with the control group.Discussion
Patients with TM had tendency to have elevated levels of plasma cadmium; however, the median level was not at a toxic level. Increased metal-ion transporter 1 activity may cause heavy metal accumulation, but deferasirox chelation may be protective against heavy metals besides iron. 相似文献60.
目的定量评价地中海贫血患者心脏和肝脏铁过载,探讨心脏、肝脏铁沉积与血清铁蛋白(SF)相关性。材料与方法应用3.0 T磁共振扫描基因确诊地中海贫血患者134例(包括中间型73例和重型61例),扫描包括:肝脏冠状面T2WI及横断面T1WI、T2WI、12回波梯度回波(T2*)序列;心脏标准横断面T2WI及两腔位、四腔位及短轴面电影和8回波梯度回波(T2*)成像。测量心肌、肝脏T2*值,所有受试者MRI扫描前1周完成SF检测。采用Spearman秩相关分析心肌、肝脏铁沉积和SF三者间相关性。结果 134例地中海贫血患者心肌T2*、肝脏T2*、SF中位数分别为23.35(1.88~36.17)ms、1.33(0.36~16.39)ms、1235.3(105.1~14673.0)μg/L,心肌-肝脏T2*(r_s=0.324,P=0.000)、心肌T2*-SF(r_s=-0.491,P=0.000)、肝脏T2*-SF(r_s=-0.697,P=0.000)具有一定相关性。73例中间型地中海贫血患者心肌T2*、肝脏T2*、SF中位数分别为26.18(7.09~36.17)ms、1.81(0.37~16.39)ms、622.8(105.1~10807.0)μg/L,心肌-肝脏T2*(r_s=0.059,P=0.619)、心肌T2*-SF(rs=-0.166,P=0.161)无明显相关,但肝脏T2*-SF间中度负相关(r_s=-0.583,P=0.000)。61例重型地中海贫血患者心肌T2*、肝脏T2*、SF中位数分别为18.80(1.88~33.11)ms、0.72(0.36~10.36)ms、3310.0(313.0~14673.0)μg/L,心肌-肝脏T2*(r_s=0.365,P=0.004)、心肌T2*-SF(r_s=-0.359,P=0.004)、肝脏T2*-SF(r_s=-0.707,P=0.000)具有轻中度相关性。结论在一定范围内,地中海贫血患者心铁沉积与肝铁含量、SF具有较低或无相关性,其间相关性可能随病情加重而增加,而肝铁过载则与SF中度负相关。 相似文献