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Pediatric Radiology - Fibro-adipose vascular anomaly (FAVA) is a rare and recently described complex vascular malformation. The clinical and imaging features and morphology can be confusing and... 相似文献
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Mustafa Anwar Muhammed Ali Shaikh Abdul Uneeb Masood Khan Muhammad Hassan Asif Hussain Khoja Andanastuti Muchtar 《Materials》2022,15(7)
Nondestructive characterization of solid oxide fuel cell (SOFC) materials has drawn attention owing to the advances in instrumentation that enable in situ characterization during high-temperature cell operation. X-ray photoelectron spectroscopy (XPS) is widely used to investigate the surface of SOFC cathode materials because of its excellent chemical specificity and surface sensitivity. The XPS can be used to analyze the elemental composition and oxidation state of cathode layers from the surface to a depth of approximately 5–10 nm. Any change in the chemical state of the SOFC cathode at the surface affects the migration of oxygen ions to the cathode/electrolyte interface via the cathode layer and causes performance degradation. The objective of this article is to provide a comprehensive review of the adoption of XPS for the characterization of SOFC cathode materials to understand its degradation mechanism in absolute terms. The use of XPS to confirm the chemical stability at the interface and the enrichment of cations on the surface is reviewed. Finally, the strategies adopted to improve the structural stability and electrochemical performance of the LSCF cathode are also discussed. 相似文献
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The effects of norepinephrine microinjected into the anterior hypothalamus were examined in feline affective defense behavior elicited by electrical stimulation of the region of the ventromedial nucleus. Anterior hypothalamic sites from which affective defense behavior could also be elicited by electrical stimulation and which are known to receive inputs from both the ventromedial nucleus and brainstem noradrenergic neurons were selected for pharmacological analysis. Intracerebral injections of 250 ng (1 nM) and 500 ng (2 nM) quantities of norepinephrine placed into the anterior hypothalamus resulted in a significant lowering of the attack thresholds. These reductions in response thresholds which were reversed by either pre- or post-treatment with yohimbine, indicate that the noradrenergic system may play an important role in the regulation of affective defense behavior. 相似文献
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A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) 下载免费PDF全文
Samiha S. Shaikh Ya‐Chun Chen Sally‐Anne Halsall Michael S. Nahorski Kiyoyuki Omoto Gareth T. Young Anne Phelan Christopher Geoffrey Woods 《Human mutation》2017,38(1):55-63
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is an autosomal recessive disorder characterized by a complete lack of pain perception and anhidrosis. Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G >A, c.1565G >A, c.1970T >C, c.2096T >C, c.2254T >A, c.2288G >C, and c.2311C >T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which were predicted pathogenic by in silico analysis. The results allowed us to assess the pathogenicity of each mutation and to gain novel insights into tropomyosin receptor kinase A (TRKA) downstream signaling. Each mutation was systematically analyzed for TRKA glycosylation states, intracellular and cell membrane expression patterns, nerve growth factor stimulated TRKA autophosphorylation, TRKA‐Y496 phosphorylation, PLCγ activity, and neurite outgrowth. We showed a diverse range of functional effects: one mutation appeared fully functional, another had partial activity in all assays, one mutation affected only the PLCγ pathway and four mutations were proved null in all assays. Thus, we conclude that complete abolition of TRKA kinase activity is not the only pathogenic mechanism underlying HSAN IV. By corollary, the assessment of the clinical pathogenicity of HSAN IV mutations is more complex than initially predicted and requires a multifaceted approach. 相似文献
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目的:探讨随访2型糖尿病(T2DM)家系非糖尿病一级亲属5年的胰岛素抵抗和胰岛β细胞功能变化。方法:入选2型糖尿病家系非糖尿病一级亲属组(FDR)32例和正常对照组(NC)18例,基线检测了体质量指数、腰臀比、血压、血脂、血糖和空腹胰岛素(FINS)水平。采用稳态模式(HOMA)评价胰岛素抵抗(HOMA-IR)和胰岛β细胞功能(HOMA-β),5年后进行了相同的随访。结果:5年后FDR组HOMA-IR明显升高(P=0.040),HOMA-β明显降低(P=0.004)。5年后FDR组与NC组HOMA-IR组间无显著差异(P=0.594),HOMA-β明显降低(P=0.000)。多元逐步回归分析显示,FINS、空腹血糖(FBG)、高密度脂蛋白-胆固醇(HDL-C)是影响FDR组胰岛素抵抗的独立危险因素;FBG和FINS是影响FDR组胰岛β细胞功能的独立危险因素。结论:T2DM患者一级亲属非肥胖患者在发生糖尿病之前已经存在胰岛素抵抗和胰岛分泌功能缺陷,且随着病程延长胰岛β细胞功能衰竭可能更明显。 相似文献
86.
S. M. Malik M. E. deVera P. Fontes O. Shaikh J. Ahmad 《American journal of transplantation》2009,9(4):782-793
Nonalcoholic steatohepatitis (NASH) associated cirrhosis is an increasing indication for liver transplant (LT). The aim of this study was to determine outcome and poor predictive factors after LT for NASH cirrhosis. We analyzed patients undergoing LT from 1997 to 2008 at a single center. NASH was diagnosed on histopathology. LT recipients with hepatitis C, alcoholic or cholestatic liver disease and cryptogenic cirrhosis acted as matched controls.
Ninety-eight LT recipients were identified with NASH cirrhosis. Compared to controls, NASH patients had a higher BMI (mean 32.3 kg/m2 ), and were more likely to be diabetic and hypertensive. Mortality after transplant was similar between NASH patients and controls but there was a tendency for higher earlier mortality in NASH patients (30-day mortality 6.1%, 1-year mortality 21.4%). Sepsis accounted for half of all deaths in NASH patients, significantly higher than controls. NASH patients ≥60 years, BMI ≥30 kg/m2 with diabetes and hypertension (HTN) had a 50% 1-year mortality.
In conclusion, patients undergoing LT for NASH cirrhosis have a similar outcome to patients undergoing LT for other indications. The combination of older age, higher BMI, diabetes and HTN are associated with poor outcome after LT. Careful consideration is warranted before offering LT to these high-risk patients. 相似文献
Ninety-eight LT recipients were identified with NASH cirrhosis. Compared to controls, NASH patients had a higher BMI (mean 32.3 kg/m
In conclusion, patients undergoing LT for NASH cirrhosis have a similar outcome to patients undergoing LT for other indications. The combination of older age, higher BMI, diabetes and HTN are associated with poor outcome after LT. Careful consideration is warranted before offering LT to these high-risk patients. 相似文献
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Binita M. Kamath Brian D. Thiel Xiaowu Gai Laura K. Conlin Pedro S. Munoz Joseph Glessner Dinah Clark Daniel M. Warthen Tamim H. Shaikh Ercan Mihci David A. Piccoli Struan F.A. Grant Hakon Hakonarson Ian D. Krantz Nancy B. Spinner 《Human mutation》2009,30(3):371-378
The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more accurately determine the deletion sizes; 2) identify and compare breakpoints; 3) establish genotype/phenotype correlations; and 4) investigate the use of the HumanHap550 platform for analysis of chromosome deletions. Deletions ranged from 95 kb to 14.62 Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95 kb and 4 Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome (AGS). The proximal and distal boundaries of these 11 deletions constitute a 5.4‐Mb region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1‐associated critical region, in which deletions do not confer findings other than those associated with AGS. The other 10 patients had deletions between 3.28 Mb and 14.62 Mb, which extended outside the critical region, and, notably, all of these patients had developmental delay. This group had other findings such as autism, scoliosis, and bifid uvula. We identified 47 additional polymorphic genome‐wide copy number variants (>20 SNPs), with 0 to 5 variants called per patient. Deletions of the short arm of chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high‐resolution definition of genomic abnormalities. Hum Mutat 0,1–8, 2008. © 2008 Wiley‐Liss, Inc. 相似文献