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排序方式: 共有1108条查询结果,搜索用时 187 毫秒
51.
52.
Elias Badal Rashu Anders Ellekær Junker Karen Vagner Danielsen Emilie Dahl Ole Hamberg Line Borgwardt Vibeke Brix Christensen Nicolai J Wewer Albrechtsen Lise L Gluud 《World Journal of Clinical Cases》2020,8(9):1642-1650
BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic disease.Its symptoms and severity are highly variable.CESD is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular disease.The majority of patients require liver transplantation due to decompensated cirrhosis.Enzyme replacement therapy has been approved based on a randomized trial.Our study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family members.CASE SUMMARY The siblings were compound heterozygous for the missense variant in LIPA exon 8,c.894G>A,(p.Gln298Gln)and a single base pair deletion,c.482del(p.Asn161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both patients.Clinically,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of CESD.Three family members who were LIPA heterozygous had a lysosomal acid lipase activity below the reference value.One of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with statins.CONCLUSION Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver transplantation.Our findings underline the need for monitoring of complications and assessment of possible further treatment. 相似文献
53.
Waldmann TA; Goldman CK; Bongiovanni KF; Sharrow SO; Davey MP; Cease KB; Greenberg SJ; Longo DL 《Blood》1988,72(5):1805-1816
Human T-cell lymphotropic virus I (HTLV-I)-induced adult T-cell leukemia (ATL) cells constitutively express interleukin-2 (IL-2) receptors identified by the anti-Tac monoclonal antibody (MoAb), whereas normal resting cells do not. This observation provided the scientific basis for a trial of intravenous anti-Tac in the treatment of nine patients with ATL. The patients did not suffer untoward reactions and did not have a reduction in the normal formed elements of the blood, and only one of the nine produced antibodies to the anti-Tac MoAb. Three patients had transient mixed, partial, or complete remissions lasting from 1 to more than 8 months after anti-Tac therapy, as assessed by routine hematologic tests, immunofluorescence analysis of circulating cells, and molecular genetic analysis of HTLV-I provirus integration and of the T-cell receptor gene rearrangement. The precise mechanism of the antitumor effects is unclear; however, the use of a MoAb that prevents the interaction of IL-2 with its receptor on ATL cells provides a rational approach for the treatment of this malignancy. 相似文献
54.
Efficient gene delivery to multipotential hematopoietic stem cells would greatly facilitate the development of effective gene therapy for certain hematopoietic disorders. We have recently described a rapid multiparameter sorting procedure for significantly enriching stem cells with competitive long-term lymphomyeloid repopulating ability (CRU) from 5-fluorouracil (5-FU)-treated mouse bone marrow. The sorted cells have now been tested as targets for retrovirus-mediated delivery of a marker gene, NeoR. They were cocultured for 4 days with fibroblasts producing a high titer of retrovirus in medium containing combinations of the hematopoietic growth factors interleukin-3 (IL-3), IL-6, c-kit ligand (KL), and leukemia inhibitory factor (LIF) and then injected into lethally irradiated recipients, together with sufficient "compromised" bone marrow cells to provide short-term support. Over 80% of the transplanted mice displayed high levels (> or = 20%) of donor- derived leukocytes when analyzed 4 to 6 months later. Proviral DNA was detected in 87% of these animals and, in half of them, the majority of the hematopoietic cells were marked. Thus, infection of the stem cells was most effective. The tissue and cellular distribution of greater than 100 unique clones in 55 mice showed that most sorted stem cells had lymphoid as well as myeloid repopulating potential. Secondary transplantation provided strong evidence for infection of very primitive stem cells because, in several instances, different secondary recipients displayed in their marrow, spleen, thymus and day 14 spleen colony-forming cells the same proviral integration pattern as the primary recipient. Neither primary engraftment nor marking efficiency varied for stem cells cultured in IL-3 + IL-6, IL-3 + IL-6 + KL, IL-3 + IL-6 + LIF, or all four factors, but those cultured in IL-3 + IL-6 + LIF appeared to have lower secondary engraftment potential. Provirus expression was detected in 72% of the strongly marked mice, albeit often at low levels. Highly efficient retroviral marking of purified lymphomyeloid repopulating stem cells should enhance studies of stem cell biology and facilitate analysis of genes controlling hematopoietic differentiation and transformation. 相似文献
55.
小鼠皮肤超氧化物歧化酶活性与枸杞多糖的干预 总被引:1,自引:0,他引:1
目的:观察枸杞多糖对皮肤胶原代谢和自由基产生的影响,探讨其抗皮肤衰老的作用。方法:实验于2005-06/2006-05在广东医学院整形外科研究所完成。①实验材料:清洁级昆明小鼠60只,月龄2个月,体质量16~24g,雌雄各半。②实验分组:将小鼠随机分为正常对照组、衰老模型组和抗衰老模型组,每组20只。③实验干预:模型组每日用D-半乳糖溶液皮下注射制造衰老模型,用量和时间为80mg/(kg·d)7d,120mg/(kg·d)14d,140mg/(kg·d)14d,180mg/(kg·d)7d。正常对照组每日注射同体积的生理盐水。抗衰老模型组在注射D-半乳糖期间以枸杞多糖灌胃,剂量为20mg/(kg·d),正常对照组和衰老组则以同体积的生理盐水代之灌胃。④实验评估:42d后切取小鼠颈背部皮肤,测定超氧化物歧化酶活力、羟脯氨酸和丙二醛含量。结果:56只小鼠进入结果分析(4只死亡)。①小鼠皮肤超氧化物歧化酶活力:与正常对照组相比,衰老组和抗衰老组小鼠皮肤超氧化物歧化酶活力降低,差异有显著性意义(P<0.01);抗衰老组与衰老模型组比较,超氧化物歧化酶活力增加,差异有显著性意义(P<0.01)。②与正常对照组相比,衰老组和抗衰老组小鼠皮肤羟脯氨酸和丙二醛含量增加,差异有显著性意义(P<0.01);抗衰老组与衰老组比较,羟脯氨酸和丙二醛含量均降低,差异有显著性意义(P<0.01)。结论:枸杞多糖改善皮肤老化的作用与提高小鼠皮肤超氧化物歧化酶活力,降低羟脯氨酸、丙二醛含量,影响胶原代谢有关。 相似文献
56.
57.
Andor E. Simon Stefan Borgwardt Anita Riecher-Rössler Eva Velthorst Lieuwe de Haan Paolo Fusar-Poli 《Psychiatry research》2013
Recent evidence suggests that transition risks from initial clinical high risk (CHR) status to psychosis are decreasing. The role played by remission in this context is mostly unknown. The present study addresses this issue by means of a meta-analysis including eight relevant studies published up to January 2012 that reported remission rates from an initial CHR status. The primary effect size measure was the longitudinal proportion of remissions compared to non-remission in subjects with a baseline CHR state. Random effect models were employed to address the high heterogeneity across studies included. To assess the robustness of the results, we performed sensitivity analyses by sequentially removing each study and rerunning the analysis. Of 773 subjects who met initial CHR criteria, 73% did not convert to psychosis along a 2-year follow. Of these, about 46% fully remitted from the baseline attenuated psychotic symptoms, as evaluated on the psychometric measures usually employed by prodromal services. The corresponding clinical remission was estimated as high as 35% of the baseline CHR sample. The CHR state is associated with a significant proportion of remitting subjects that can be accounted by the effective treatments received, a lead time bias, a dilution effect, a comorbid effect of other psychiatric diagnoses. 相似文献
58.
Soubhagya R. Nayak Ashwin Krishnamurthy SJ Madhan Kumar Latha V. Prabhu Bhagath Kumar Potu Sujatha D’Costa Anu Vinod Ranade 《Hand (New York, N.Y.)》2010,5(1):31-36
The superficial palmar arch (SPA) and its contributing arteries are highly variable. The palmar type of median artery (PMA)
can be involved in the formation of the SPA by replacing the superficial palmar branch of the radial artery (RA) or the ulnar
artery (UA). The present study was undertaken to investigate the presence of the PMA and its contribution in the formation
of SPA in 42 cadavers (84 upper limbs) of Indian origin. When there was a PMA, its outer diameter was measured in the carpal
tunnel. The PMA was found in 13 upper limbs (15.4%), and of these ten incidences (11.9%), the PMA took part in the formation
of SPA, and in three instances (3.5%), the PMA did not make up part of the SPA. Out of the ten cases in which the PMA contributed
to the formation of SPA, in six cases (7.1%), the PMA anastomosed with the UA; in three cases (3.5%), the PMA anastomosed
with both the UA and the RA, and in one incidence (1.1%), the PMA joined the arteria radialis indicis (deep branch of the
RA) to complete the SPA. The outer diameters of the median arteries varied between 0.8 and 2.6 mm with the mean value of 1.7 mm.
The present study concludes that the median–ulnar type of SPA was the most common type of SPA when the PMA was encountered
as a source of superficial arterial arcade of the hand, followed by the radial–median–ulnar type. The vascular patterns found
in this study are important to hand surgeons. The present study of PMA origin, course, and its contribution to the SPA will
add to the existing knowledge of the vascular anatomy of forearm and hand. 相似文献
59.
Summary The purpose of this study was to evaluate the occurrence of superficial flaws after machining and to identify fracture initiation and propagation in three‐unit heat‐treated machined fixed partial dentures (FPDs) substructures made of hot isostatic pressed (HIPed) yttria‐stabilized tetragonal zirconia polycrystal (Y‐TZP) after loaded to fracture. Four three‐unit HIPed Y‐TZP‐based FPDs substructures were examined. To evaluate the occurrence of superficial flaws after machining, the surfaces were studied utilizing a fluorescent penetrant method. After static loading to fracture, characteristic fracture features on both mating halves of the fractured specimens were studied using a stereomicroscope and a scanning electron microscope. Grinding grooves were clearly visible on the surfaces of the machined FPDs substructures, but no other flaws could be seen with the fluorescent penetrant method. After loading to fracture, the characteristic fracture features of arrest lines, compression curl, fracture mirror, fracture origin, hackle and twist hackle were detected. These findings indicated that the decisive fracture was initiated at the gingival embrasure of the pontic in association with a grinding groove. Thus, in three‐unit heat‐treated machined HIPed Y‐TZP FPDs substructures, with the shape studied in this study, the gingival embrasure of the pontic seems to be a weak area providing a location for tensile stresses when they are occlusally loaded. In this area, fracture initiation may be located to a grinding groove. 相似文献
60.
B Sch?nrath D Borgwardt D Langanke H Alexander D Baier K W Haake 《Zentralblatt für Gyn?kologie》1990,112(5):267-271
During 5 years 382 laparoscopies were carried through in female patients with sterility in different kinds of anaesthesia (Intubation anaesthesia, spinal anaesthesia, and i.v. anaesthesia). We found the most advantageous results in the cases of i.v. anaesthesia with Ketamin and Diazepam. 相似文献