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31.
Previous studies on the association of ankylosing spondylitis and
abnormalities of the lung parenchyma have been based largely on plain
radiography and pulmonary function testing. This study, although
uncontrolled, is the first to use high-resolution computed tomography to
examine the entire lung parenchyma in ankylosing spondylitis patients, and
to correlate the findings with clinical assessment, plain radiography and
pulmonary function testing. The study population comprised 26 patients
meeting the New York criteria for idiopathic ankylosing spondylitis who
attended the out-patient department at our institution. High-resolution
computed tomography examination revealed abnormalities in 19 patients
(70%): these included interstitial lung disease (n = 4), bronchiectasis (n
= 6), emphysema (n = 4), apical fibrosis (n = 2), mycetoma (n = 1) and
non-specific interstitial lung disease (n = 12). Plain radiography was
abnormal in only four patients and failed to identify any patient with
interstitial lung disease. All patients with interstitial lung disease on
high-resolution computed tomography had respiratory symptoms and three of
the four had evidence of a restrictive process on pulmonary function
testing. This study raises, for the first time, the possible association
between interstitial lung disease and ankylosing spondylitis, and
highlights the use of high-resolution computed tomography in detecting such
disease in ankylosing spondylitis patients.
相似文献
32.
Chronic graft-versus-host disease in 52 patients: adverse natural course and successful treatment with combination immunosuppression 总被引:18,自引:26,他引:18
Sullivan KM; Shulman HM; Storb R; Weiden PL; Witherspoon RP; McDonald GB; Schubert MM; Atkinson K; Thomas ED 《Blood》1981,57(2):267-276
Fifty-two of 175 (30%) survivors of allogeneic marrow transplantation developed chronic graft-versus-hose diseases (GVHD). Five with limited chronic GVHD had an indolent clinical course with involvement of only the skin and liver. Forty-seven with extensive chronic GVHD had an unfavorable multiorgan disorder that resembled several autoimmune diseases. Thirteen patients with extensive disease (group I) were not treated and only 2 survive with Karnofsky scores >- 70%. Mortality resulted from infections and morbidity from sica syndrome, pulmonary and hepatic insufficiency, scleroderma-like skin disease, and contractures. Another 13 (group II) received a median of 8 mo prednisone and/or a brief course of antithymocyte globulin, and 3 survive without disability. The other 21 (group III) were treated with a combination of prednisone (1.0 mg/kg/q.o.d.) and either cyclophosphamide, procarbazine, or azathioprine (all 1.5 mg/kg/day) for a median of 13 mo. Combination therapy was well tolerated with only modest myelotoxicity. Fifteen in group III had a good and 4 a fair response to treatment while 2 with no response died. Azathioprine and prednisone was the most effective regimen. All therapy has been discontinued in 12 group III patients: GVHD returned in 5 (including 2 who died in spite of retreatment) while 7 remain free of GVHD for a median of 11 (range 6-30) mo observation. Only I group III survivor is disabled and 16 of the original 21 are alive 2-4 yr after transplant with Karnofsky scores of 70%-100%. Thus, combination immmunosuppression appears to favorably affect and, in some cases, premanently arrest the adverse natural course of extensive chronic GVHD. 相似文献
33.
国内六大行政区域六城市中老年人群膝关节骨性关节炎患病危险因素比较 总被引:8,自引:3,他引:8
目的:了解中国不同地区间中老年人群膝关节骨性关节炎患病危险因素。方法:调查时间为2005—07/08。①从中国六大行政区(西北,华北,华东。中南,东北,西南)选出六城市(西安,石家庄,上海。广州,哈尔滨市,成都),用分层多阶段整群抽样方法,抽取6218名40岁及以上具有正式户口常住男女人群进行膝关节骨性关节炎的流行病学问卷调查(包括一般情况、现病史、既往史、体格检查、X射线片检查情况和疾病诊断6个方面,共计94个问题141个变量指标),并对其中4808名有症状者进行X射线平片膝正侧位投照。②膝关节骨性关节炎诊断标准为临床症状阳性加X射线Kellgren & Lawrence分级二级及以上者。③计算患病率,并采用Epilnf06.0和SPSS 10.0软件对其中83个变量进行多因素非条件Logistfc回归分析,表示疾病与暴露因素之间联系强度的指标用比值比(OR),若OR〉1,说明疾病发生危险性增加,与暴露因素呈正关联;若OR〈1,说明疾病发生危险性减少,与暴露因素呈负关联。
结果:①六城市膝关节骨性关节炎总患病率为15.6%,其中西安7.7%,石家庄11.2%,上海9.8%。广州30.5%,哈尔滨16.9%,成都17.5%,各城市患病率比较差异显著(P〈0.01)。②Logistic回归分析膝关节骨性关节炎在大部分城市有共同的危险因素如年龄大(OR=1.032—1.181),使用蹲坑排便年限长(OR=1.021-1.077),体质量高(OR=1.048—1.073),和开始饮酒年龄大(OR=1.008~1.028);而从事专职体育运动(OR=1.651,西安),骨质疏松病史(OR=3.311,石家庄),吸烟(OR=2.654,石家庄),类风湿关节炎病史(OR=4.964,上海),文化程度高(OR=2.593,上海),女性(OR=2.510,广州),姐妹骨关节炎史(OR=13.251,哈尔滨),母亲骨关节炎史(OR=5.683,成都)等危险因素分别在不同地区出现.
结论:年龄大、使用蹲坑排便年限长、体质量高和开始饮酒年龄大是中国六地区膝关节骨性关节炎患病的共同危险因素,同时,不同地区主要危险因素又有一定差异。 相似文献
34.
35.
36.
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders 总被引:3,自引:2,他引:3
Neri C; Albanese V; Lebre AS; Holbert S; Saada C; Bougueleret L; Meier-Ewert S; Le Gall I; Millasseau P; Bui H; Giudicelli C; Massart C; Guillou S; Gervy P; Poullier E; Rigault P; Weissenbach J; Lennon G; Chumakov I; Dausset J; Lehrach H; Cohen D; Cann HM 《Human molecular genetics》1996,5(7):1001-1009
37.
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 总被引:56,自引:0,他引:56
Vogt PH; Edelmann A; Kirsch S; Henegariu O; Hirschmann P; Kiesewetter F; Kohn FM; Schill WB; Farah S; Ramos C; Hartmann M; Hartschuh W; Meschede D; Behre HM; Castel A; Nieschlag E; Weidner W; Grone HJ; Jung A; Engel W; Haidl G 《Human molecular genetics》1996,5(7):933-943
In a large collaborative screening project, 370 men with idiopathic
azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA
loci in Yq11. In 12 individuals, we observed de novo microdeletions
involving several DNA loci, while an additional patient had an inherited
deletion. They were mapped to three different subregions in Yq11. One
subregion coincides to the AZF region defined recently in distal Yq11. The
second and third subregion were mapped proximal to it, in proximal and
middle Yq11, respectively. The different deletions observed were not
overlapping but the extension of the deleted Y DNA in each subregion was
similar in each patient analysed. In testis tissue sections, disruption of
spermatogenesis was shown to be at the same phase when the microdeletion
occurred in the same Yq11 subregion but at a different phase when the
microdeletion occurred in a different Yq11 subregion. Therefore, we propose
the presence of not one but three spermatogenesis loci in Yq11 and that
each locus is active during a different phase of male germ cell
development. As the most severe phenotype after deletion of each locus is
azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable
phase of function in human spermatogenesis and candidate genes involved
will be discussed.
相似文献
38.
Peter Henneman Femke van der Sman-de Beer Payman Hanifi Moghaddam Petra Huijts Anton FH Stalenhoef John JP Kastelein Cornelia M van Duijn Louis M Havekes Rune R Frants Ko Willems van Dijk Augustinus HM Smelt 《European journal of human genetics : EJHG》2009,17(5):620-628
Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper- and 52 normolipidemic E2/2 subjects, by testing for polymorphisms in APOC3, APOA5, HL (hepatic lipase) and LPL (lipoprotein lipase) genes. In addition, 188 normolipidemic Dutch control panels (NDCP) and 141 hypertriglyceridemic (HTG) patients were genotyped as well. No associations were found for four HL gene polymorphisms and two LPL gene polymorphisms and type III HLP. The frequency of the rare allele of APOC3 3238 G>C and APOA5 −1131 T>C (in linkage disequilibrium) was significantly higher in type III HLP patients when compared with normolipidemic E2/2 subjects, 15.6 vs 6.9% and 15.1 vs 5.8%, respectively, (P<0.05). Furthermore, the frequencies of the APOA5 c.56 G>C polymorphism and LPL c.27 G>A mutation were higher in type III HLP patients, though not significant. Some 58% of the type III HLP patients carried either the APOA5 −1131 T>C, c.56 G>C and/or LPL c.27 G>A mutation as compared to 27% of the normolipidemic APOE2/2 subjects (odds ratio 3.7, 95% confidence interval=1.8–7.5, P<0.0001). The HTG patients showed similar allele frequencies of the APOA5, APOC3 and LPL polymorphisms, whereas the NDCP showed similar allele frequencies as the normolipidemic APOE2/2. Patients with the APOC3 3238 G>C/APOA5 −1131 T>C polymorphism showed a more severe hyperlipidemia than patients without this polymorphism. Polymorphisms in lipolysis genes associate with the expression and severity of type III HLP in APOE2/2. 相似文献
39.
Janneke AL van Kempen Henk J Schers Anne Jacobs Sytse U Zuidema Franca Ruikes Sarah HM Robben René JF Melis Marcel GM Olde Rikkert 《The British journal of general practice》2013,63(608):e225-e231
Background
Primary care is increasingly interested in the identification of frailty, as it selects the target population for integrated care. However, instruments for the identification of frailty specifically validated for use in primary care are scarce. This study developed the Easycare Two-step Older persons Screening (Easycare-TOS), which provides a valid, efficient, and pragmatic screening procedure to identify frail older people.Aim
This paper aims to describe the development of the Easycare-TOS and the data from the pilot studies.Design and setting
Observational pilot study in seven academic GP practices in and around Nijmegen, The Netherlands.Method
The Easycare-TOS was developed in a cyclic process with the input of stakeholders. In every cycle, the requirements were first defined, then translated into a prototype that was tested in a pilot study. The Easycare-TOS makes optimal use of prior knowledge of the GP, and the professionals’ appraisal is decisive in the frailty decision, instead of a cut-off score. Further, it considers aspects of frailty, as well as aspects of the care context of the patient.Results
The pilot data have shown that after step 1, two-thirds of the patients do not need further assessment, because they are judged as not frail, based on prior knowledge of the GP. The overall prevalence of frailty in this pilot study is 24%. Most professionals who participated in the pilot studies considered the time investment acceptable and the method to be of added value.Conclusion
The Easycare-TOS instrument meets the predefined efficiency, flexibility, and acceptability requirements for use as an identification instrument for frailty in primary care. 相似文献40.
Semen parameters and testicular pathology in men with testicular cancer and contralateral carcinoma in situ or bilateral testicular malignancies 总被引:2,自引:2,他引:2
Kliesch S; Bergmann M; Hertle L; Nieschlag E; Behre HM 《Human reproduction (Oxford, England)》1997,12(12):2830-2835
We evaluated 14 patients with bilateral testicular tumour, one-sided tumour
and contralateral carcinoma in situ (CIS) of the testis or testis tumour in
single testis with respect to their fertility. We analysed semen
parameters, serum hormones [follicle-stimulating hormone (FSH), luteinizing
hormone (LH) and testosterone], testicular sonography, testicular volumes
and testicular histology prior to further anti-cancer treatment. Ten out of
14 patients showed normal or reduced sperm concentrations, while 4/14
patients were azoospermic. Serum FSH levels showed a significant negative
correlation with sperm concentrations in patients with testicular
malignancies (r = -0.64, P = 0.025). Testicular volumes revealed a
significant positive correlation with semen parameters in patients with
testes that were affected by CIS (r = 0.733, P = 0.038). We conclude that
even bilateral testicular cancer and/or CIS do not preclude fertility and,
therefore, patients should be offered andrological investigation and
therapy, including possibly surveillance strategy or the chance for
cryopreservation of the semen prior to further treatment in order to
preserve their chances for paternity.
相似文献