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81.
A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families 下载免费PDF全文
Sofie Metsu Jacqueline K. Rainger Kim Debacker Birgitta Bernhard Liesbeth Rooms Daria Grafodatskaya Rosanna Weksberg Eric Fombonne Martin S. Taylor Stephen W. Scherer R. Frank Kooy David R. FitzPatrick 《Human mutation》2014,35(11):1295-1300
We report de novo occurrence of the 7p11.2 folate‐sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG‐repeat expansion mutation (~450 repeats) in a 5′ intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband‐derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated premutation (85 repeats). This CGG‐repeat showed length polymorphism in control samples (five to 22 repeats). In a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A premutations, which were partially or mosaically methylated. In one of the affected siblings, mitotic instability of the premutation was observed. ZNF713 expression in LCLs in this family was increased in three of these four premutation carriers. A firm link cannot yet be established between ASD and the repeat expansion mutation but plausible pathogenic mechanisms are discussed. 相似文献
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Chih H. King Eric Lancaster Daniela Salomon Elior Peles Steven S. Scherer 《The Journal of comparative neurology》2014,522(14):3262-3280
The Kv7 (KCNQ) family of voltage‐gated K+ channels regulates cellular excitability. The functional role of Kv7.2 has been hampered by the lack of a viable Kcnq2‐null animal model. In this study, we generated homozygous Kcnq2‐null sensory neurons using the Cre‐Lox system; in these mice, Kv7.2 expression is absent in the peripheral sensory neurons, whereas the expression of other molecular components of nodes (including Kv7.3), paranodes, and juxtaparanodes is not altered. The conditional Kcnq2‐null animals exhibit normal motor performance but have increased thermal hyperalgesia and mechanical allodynia. Whole‐cell patch recording technique demonstrates that Kcnq2‐null sensory neurons have increased excitability and reduced spike frequency adaptation. Taken together, our results suggest that the loss of Kv7.2 activity increases the excitability of primary sensory neurons. J. Comp. Neurol. 522:3262–3280, 2014. © 2014 Wiley Periodicals, Inc. 相似文献
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Liu J Zhou L Xiong K Godlewski G Mukhopadhyay B Tam J Yin S Gao P Shan X Pickel J Bataller R O'Hare J Scherer T Buettner C Kunos G 《Gastroenterology》2012,142(5):1218-1228.e1
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Celestino-Soper PB Violante S Crawford EL Luo R Lionel AC Delaby E Cai G Sadikovic B Lee K Lo C Gao K Person RE Moss TJ German JR Huang N Shinawi M Treadwell-Deering D Szatmari P Roberts W Fernandez B Schroer RJ Stevenson RE Buxbaum JD Betancur C Scherer SW Sanders SJ Geschwind DH Sutcliffe JS Hurles ME Wanders RJ Shaw CA Leal SM Cook EH Goin-Kochel RP Vaz FM Beaudet AL 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(21):7974-7981
We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and γ-butyrobetaine) in plasma and urine. TMLHE deficiency is common in control males (24 in 8,787 or 1 in 366) and was not significantly increased in frequency in probands from simplex autism families (9 in 2,904 or 1 in 323). However, it was 2.82-fold more frequent in probands from male-male multiplex autism families compared with controls (7 in 909 or 1 in 130; P = 0.023). Additionally, six of seven autistic male siblings of probands in male-male multiplex families had the deletion, suggesting that TMLHE deficiency is a risk factor for autism (metaanalysis Z-score = 2.90 and P = 0.0037), although with low penetrance (2-4%). These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism. 相似文献
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Sun K Wernstedt Asterholm I Kusminski CM Bueno AC Wang ZV Pollard JW Brekken RA Scherer PE 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(15):5874-5879
Obese fat pads are frequently undervascularized and hypoxic, leading to increased fibrosis, inflammation, and ultimately insulin resistance. We hypothesized that VEGF-A-induced stimulation of angiogenesis enables sustained and sufficient oxygen and nutrient exchange during fat mass expansion, thereby improving adipose tissue function. Using a doxycycline (Dox)-inducible adipocyte-specific VEGF-A overexpression model, we demonstrate that the local up-regulation of VEGF-A in adipocytes improves vascularization and causes a "browning" of white adipose tissue (AT), with massive up-regulation of UCP1 and PGC1α. This is associated with an increase in energy expenditure and resistance to high fat diet-mediated metabolic insults. Similarly, inhibition of VEGF-A-induced activation of VEGFR2 during the early phase of high fat diet-induced weight gain, causes aggravated systemic insulin resistance. However, the same VEGF-A-VEGFR2 blockade in ob/ob mice leads to a reduced body-weight gain, an improvement in insulin sensitivity, a decrease in inflammatory factors, and increased incidence of adipocyte death. The consequences of modulation of angiogenic activity are therefore context dependent. Proangiogenic activity during adipose tissue expansion is beneficial, associated with potent protective effects on metabolism, whereas antiangiogenic action in the context of preexisting adipose tissue dysfunction leads to improvements in metabolism, an effect likely mediated by the ablation of dysfunctional proinflammatory adipocytes. 相似文献
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Elisabeth V.C. Friedrich Reinhold Scherer Christa Neuper 《Clinical neurophysiology》2013,124(1):61-69
ObjectiveThe aim of this study was to examine the temporal stability of event-related desynchronization/synchronization (ERD/S) patterns over several sessions as a function of mental task, frequency band, brain region and time interval during the imagery period.MethodsNine volunteers participated in four sessions within 2 weeks of multi-channel EEG recordings. They performed seven mental tasks (i.e. mental rotation, word association, auditory imagery, mental subtraction, spatial navigation, imagery of familiar faces, motor imagery) during 7-s imagery periods. Cronbach’s alpha coefficients were calculated over sessions to evaluate the stability of ERD/S values.ResultsThe word association, mental subtraction and spatial navigation task showed highest stability. Cronbach’s alpha coefficients were highest in the alpha bands (7–10, 10–13 Hz), poorer in the beta bands (13–20, 20–30 Hz) and poorest in the theta band (4–7 Hz). In the majority of tasks, the first time interval and posterior left regions showed highest stability and strongest ERD in the alpha and beta bands.ConclusionStability of ERD/S is strongly dependent on the specific task and differs between time intervals of the imagery period. Furthermore, stability was related to ERD in the alpha and beta bands.SignificanceThe reliability of brain activation patterns is highly relevant for brain–computer interface developments. 相似文献
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