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排序方式: 共有206条查询结果,搜索用时 46 毫秒
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Alban Godon Franck Genevieve Isabelle Valo Nicolas Josselin Pascaline Talmant Charles Foussard Herve Avet-Loiseau Nobert Ifrah Marc Zandecki Marie-Christine Rousselet 《Diagnostic molecular pathology》2004,13(2):97-104
Cytogenetic studies in lymphomas classically require fresh or frozen tissue, whereas in many instances only paraffin-embedded biopsies are available. We applied an interphase FISH assay on nuclei extracted from thick paraffin sections to determine accuracy of molecular cytogenetics in such samples. Twenty-three lymphoma samples and 4 reactive lymph nodes were tested with various commercially available DNA probes, and hybridization patterns were compared with those obtained on frozen nuclei counterparts. Successful hybridization with all probes tested was observed for 23/27 (85%) paraffin-embedded tissues and for all (100%) frozen samples, and cut-off levels defining positivity were superimposable for both situations. Chromosome changes were detected in the same way, without any false-positive or false-negative cases. Hybridization signals observed on dewaxed samples were either those classically expected to define the relevant chromosome change or were atypical: all atypical changes could be demonstrated also into nuclei from the frozen counterpart. Moreover, all typical and atypical chromosome changes observed on frozen nuclei were also detected in paraffin-embedded tissues. Our study shows that our interphase FISH assay performed on paraffin-embedded samples is a valuable alternate to conventional methods to ascertain diagnosis of lymphomas as to include patients into therapeutic trials. 相似文献
3.
Arnaud Bernard Johanne Le Beyec-Le Bihan Loredana Radoi Muriel Coupaye Ouidad Sami Nathalie Casanova Cdric Le May Xavier Collet Pascaline Delaby Cindy Le Bourgot Philippe Besnard Sverine Ledoux 《Nutrients》2021,13(3)
The aim of this study was to explore the impact of bariatric surgery on fat and sweet taste perceptions and to determine the possible correlations with gut appetite-regulating peptides and subjective food sensations. Women suffering from severe obesity (BMI > 35 kg/m2) were studied 2 weeks before and 6 months after a vertical sleeve gastrectomy (VSG, n = 32) or a Roux-en-Y gastric bypass (RYGB, n = 12). Linoleic acid (LA) and sucrose perception thresholds were determined using the three-alternative forced-choice procedure, gut hormones were assayed before and after a test meal and subjective changes in oral food sensations were self-reported using a standardized questionnaire. Despite a global positive effect of both surgeries on the reported gustatory sensations, a change in the taste sensitivity was only found after RYGB for LA. However, the fat and sweet taste perceptions were not homogenous between patients who underwent the same surgery procedure, suggesting the existence of two subgroups: patients with and without taste improvement. These gustatory changes were not correlated to the surgery-mediated modifications of the main gut appetite-regulating hormones. Collectively these data highlight the complexity of relationships between bariatric surgery and taste sensitivity and suggest that VSG and RYGB might impact the fatty taste perception differently. 相似文献
4.
Roberto Maggio Fabio Fumagalli Eugenio Donati Pascaline Barbier Giorgio Racagni Giovanni U. Corsini Marco Riva 《Brain research》1995,679(1):184
We investigated whether the severity of convulsions evoked by kainic acid and pilocarpine is modified in nitric oxide synthase inhibitor-treated rats. We found that chronic treatment (4 days) withNw-nitro-l-arginine greatly potentiates seizures induced by both convulsants suggesting a potential role for nitric oxide in mechanisms regulating seizure induction and propagation. 相似文献
5.
A paradigm shift has occurred in the last ten years in the diagnostic field of Alzheimer's disease (AD). Scientific thought has enriched the concept of AD as a pathophysiological continuum and emphasized contribution of biological, morphological and functional brain imaging biomarkers for diagnosis, in particular during the early stages of the disease. We address here the present and the future of these biological biomarkers. Most of them are linked to the pathophysiological lesions of the Alzheimer process: aggregates of hyperphosphorylated tau proteins, also called neurofibrillary tangles (NFT), and extracellular deposit of amyloid-beta peptides (Aβ), also called senile plaques. The detection in the cerebrospinal fluid (CSF) of tau and Aβ represents the current diagnostic practice of AD. Improvement for a more accurate and earlier biological diagnosis is however expected using a new generation of biomarkers, mostly in relation with tau and Aβ metabolism. 相似文献
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Ccile Toly‐Ndour Stphanie Huguet‐Jacquot Agns Mailloux Hlne Delaby Giorgia Canellini Martin L. Olsson Agneta Wikman Joke M. Koelewijn Jean‐Marc Minon Tobias J. Legler Frederik B. Clausen Mark Lambert Helen Ryan Irena Bricl Sys Hasslund Agnieszka Orzinska Katarzyna Guz Malgorzata Uhrynowska Antonella Matteocci Nuria Nogues Eduardo Muniz‐Diaz Susanna Sainio Masja De Haas C. Ellen Van der Schoot 《ISBT科学丛刊》2021,16(1):106-118
8.
Daniela Di Giacomo Pascaline Gaildrat Anna Abuli Julie Abdat Thierry Frébourg Mario Tosi Alexandra Martins 《Human mutation》2013,34(11):1547-1557
Exonic variants can alter pre‐mRNA splicing either by changing splice sites or by modifying splicing regulatory elements. Often these effects are difficult to predict and are only detected by performing RNA analyses. Here, we analyzed, in a minigene assay, 26 variants identified in the exon 7 of BRCA2, a cancer predisposition gene. Our results revealed eight new exon skipping mutations in this exon: one directly altering the 5′ splice site and seven affecting potential regulatory elements. This brings the number of splicing regulatory mutations detected in BRCA2 exon 7 to a total of 11, a remarkably high number considering the total number of variants reported in this exon (n = 36), all tested in our minigene assay. We then exploited this large set of splicing data to test the predictive value of splicing regulator hexamers’ scores recently established by Ke et al. ( 2011 ). Comparisons of hexamer‐based predictions with our experimental data revealed high sensitivity in detecting variants that increased exon skipping, an important feature for prescreening variants before RNA analysis. In conclusion, hexamer scores represent a promising tool for predicting the biological consequences of exonic variants and may have important applications for the interpretation of variants detected by high‐throughput sequencing. 相似文献
9.
Background
Severe acute pancreatitis (SAP) is characterised by two distinct clinical phases. Organ dysfunction and death is initially as a result of a systemic inflammatory response syndrome (SIRS). Systemic sepsis from infected pancreatic necrosis characterises the second phase, the so called 'second hit' of acute pancreatitis (AP). An immune imbalance during the second hit is postulated to contribute to the formation of the septic complications that occur in these patients. The pro-inflammatory T-helper (Th) 17 pathway has been shown to be an initiator of early SIRS in AP, however to date its role has not been established in the second hit in AP.Methods
Thirty-six patients with mild (n?=?16), moderate (n?=?10) and severe (n?=?10) acute pancreatitis were enrolled. Peripheral blood samples were drawn on days 7, 9, 11 and 13 of illness for analysis of routine clinical markers as well as cytokine analysis. Flow cytometry and a IL-17A ELISA was performed to determine cytokine concentrations.Results
There were no significant differences between days 7, 9, 11 and 13 for either the mild/moderate or SAP groups for IL-17A (CBA assay or ELISA), IFN-γ, TNF-α, IL-2 or IL-4. For each of the study days, the mean IL-6 and IL-10 concentrations were significantly higher in the SAP group compared to the mild/moderate group. WCC, CRP and PCT were all significantly higher in severe acute pancreatitis over the study days.Conclusions
An immune imbalance exists in patients with SAP, however secreted IL-17A is not responsible for the second hit in AP. 相似文献10.
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