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51.
Helga V. Toriello Miriam Erick Jean‐Luc Alessandri Diana Bailey Nicola Brunetti‐Pierri Helen Cox Alan Fryer Denise Marty Charles McCurdy John B. Mulliken Helen Murphy Joseph Omlor Richard M. Pauli Judith D. Ranells Amarillis Sanchez‐Valle Ana Tobiasz Lionel Van Maldergem Angela E. Lin 《American journal of medical genetics. Part A》2013,161(3):417-429
Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency. © 2013 Wiley Periodicals, Inc. 相似文献
52.
Pascale Stadelmann Regina Alessandri Sigrun Eick Giovanni E. Salvi Daniel Surbek Anton Sculean 《Clinical oral investigations》2013,17(6):1453-1463
Objectives
The association between periodontal disease and adverse pregnancy outcomes (APO), primarily preterm birth (PTB), is still controversially discussed in the literature. Therefore, the aim of the present systematic review was to analyze the existing literature on the potential association between inflammatory mediators detected in gingival crevicular fluid (GCF) and APO.Materials and methods
MEDLINE (PubMed) and EMBASE databases were searched for entries up to April 2012 and studies were selected by two independent reviewers.Results
The majority of the eight studies included confirmed a positive association between GCF mediators, such as interleukin-1β, prostaglandin E2, and tumor necrosis factor-alpha, and APO. Due to the heterogeneity and variability of the available studies, no meta-analysis could be performed.Conclusions
A positive association between GCF inflammatory mediator levels and APO/PTB might be present but the results need to be considered with great caution because of the heterogeneity and variability among the studies. Further studies with an adequate number of patients allowing for an appropriate analysis are warranted to definitely confirm this association.Clinical relevance
The present findings suggest that an association between GCF inflammatory mediator levels and APO might exist. 相似文献53.
54.
Poon JL Zhou ZY Doctor JN Wu J Ullman MM Ross C Riske B Parish KL Lou M Koerper MA Gwadry-Sridhar F Forsberg AD Curtis RG Johnson KA 《Haemophilia》2012,18(5):699-707
Summary. This study describes health‐related quality of life (HRQoL) of persons with haemophilia A in the United States (US) and determines associations between self‐reported joint pain, motion limitation and clinically evaluated joint range of motion (ROM), and between HRQoL and ROM. As part of a 2‐year cohort study, we collected baseline HRQoL using the SF‐12 (adults) and PedsQL (children), along with self‐ratings of joint pain and motion limitation, in persons with factor VIII deficiency recruited from six Haemophilia Treatment Centres (HTCs) in geographically diverse regions of the US. Clinically measured joint ROM measurements were collected from medical charts of a subset of participants. Adults (N = 156, mean age: 33.5 ± 12.6 years) had mean physical and mental component scores of 43.4 ± 10.7 and 50.9 ± 10.1, respectively. Children (N = 164, mean age: 9.7 ± 4.5 years) had mean total PedsQL, physical functioning, and psychosocial health scores of 85.9 ± 13.8, 89.5 ± 15.2, and 84.1 ± 15.3, respectively. Persons with more severe haemophilia and higher self‐reported joint pain and motion limitation had poorer scores, particularly in the physical aspects of HRQoL. In adults, significant correlations (P < 0.01) were found between ROM measures and both self‐reported measures. Except among those with severe disease, children and adults with haemophilia have HRQoL scores comparable with those of the healthy US population. The physical aspects of HRQoL in both adults and children with haemophilia A in the US decrease with increasing severity of illness. However, scores for mental aspects of HRQoL do not differ between severity groups. These findings are comparable with those from studies in European and Canadian haemophilia populations. 相似文献
55.
Dynamic interplays between memory systems depend on practice: the hippocampus is not always the first to provide solution 总被引:1,自引:0,他引:1
Previous studies showed that the optimization of behavioral performance through extended training depends on a switch from hippocampus-based memory to striatum-based habit. Here we investigate whether the amount of training within one learning session influences the retention of memory for hippocampal versus striatal strategies. Mice were trained to search for a submerged cue-marked platform which remained in the same spatial location in the water-maze for each of three training regimens (4, 12 or 22 trials). Subsequently, they were either tested for retention of memory 1 h or 24 h later on a probe test or killed at different time points over a 7-h period to determine the kinetic of cAMP response element binding protein (CREB) phosphorylation in both memory systems. During the probe test mice had to choose between a submerged platform located in the same position as during the acquisition phase (spatial solution) and a platform marked by the cue but located in the opposite quadrant of the pool (cue-guided solution). Results showed that the animals first preferred the cue-marked platform, which represents a strategy that was selectively impaired by lesions of the dorsolateral caudate-putamen. With further practice, or context pre-exposure, animals transiently favored the hippocampus-dependent place solution but finally, both strategies became interchangeable and insensitive to either lesion. CREB phosphorylation increased in both memory systems following acquisition but training-dependent changes selectively occurred in the hippocampus wherein biphasic activation was initiated by the four-trial training and blocked by training for 22 trials. These findings indicate that learning in one session consists of three acquisition stages with parallel engagement of multiple memory systems at the beginning of learning. They suggest, however, that, in a later phase, dynamic interplays promote the use of the most adapted brain system depending on practice and this is accompanied by specific patterns of CREB phosphorylation in the hippocampus. 相似文献
56.
Gravet A Camdessoucens G Murbach V Barrand P Boucher A Boulenc A De Briel D Delarbre JM Drzewinski JC Flipo JL Gherardi C Grawey I Gueudet T Heidt A Herzig V Izraelewicz D Jehl F Kientz P Lantz V Lemble C Pierrot P Rieder C Riehm D Tytgat F 《Pathologie-biologie》2007,55(8-9):424-428
OBJECTIVES: Between 1st January 2005 and 31st December 2005, 232 strains of Streptococcus pneumoniae were collected in the Alsace county from participating laboratories (one from university hospital, 7 from general hospitals and 12 private laboratories) to assess their susceptibility to penicillin and evaluated serogroups of strains. METHOD: The coordinating centre performed MICs by the reference agar dilution test, interpreted according to CA-SFM breakpoints. Others antibiotics (erythromycin, cotrimoxazole, tetracycline...) were tested by agar diffusion, ATB-PNEUMO gallery or VITEK gallery (BioMérieux, France) by each participating laboratory. Data were processed, using 4th dimension software. RESULTS: Strains were collected from 151 blood samples, 38 ear pus, 11 cerebrospinal fluids, 8 pleural liquids and 24 representative pulmonary samples. The prevalence of pneumococci with decreased susceptibility to penicillin G (PDSP) is 35.1% (pulmonary samples excluded). The rate of PNSP decreases for all types of samples compared with other years of surveillance 2003 (44.0%). The rate of blood samples decreases for first time between the creation of Pneumococcal Observatory. The high-level resistance tend to decrease and began low. The PDSP are rather resistant to erythromycin, cotrimoxazole and fosfomycin. Among the PDSP, the most prevalent serotypes were 14, 19, 6 and 9. CONCLUSION: Among pneumococcal strains, the rate of PDSP tend however to decrease in 2005 compared with 2003. The rate stays inferior to the observed rates in other French counties where the same decreasing is described. 相似文献
57.
Matsuzaki S Canis M Pouly JL Botchorishvili R Déchelotte PJ Mage G 《Human reproduction (Oxford, England)》2007,22(1):124-128
BACKGROUND: Deep infiltrating endometriosis (DIE) is commonly associated with severe pain. The pain can be managed successfully with GnRH agonists or continuous progestins. The precise molecular mechanism by which DIE causes pain or why hormonal treatment is effective, however, remains unclear. We recently identified three potential candidate genes that might be involved in DIE pain pathways: tyrosine kinase receptor B (TrKB), mu-opioid receptor (MOR) and serotonin transporter (5HTT). We hypothesized that if these three genes were involved in DIE-associated pain, their expression levels would probably be modulated by GnRH agonist or progestin. In this study, we compared mRNA expression levels of TrKB, MOR and 5HTT in DIE among patients pre-operatively treated with GnRH agonist, progestin or without pre-operative medical treatments. METHODS: The expression levels of TrKB, MOR and 5HTT mRNA in DIE were determined using laser capture microdissection and real-time RT-PCR techniques. RESULTS: The expression levels of TrKB in epithelial cells and MOR in stromal cells from DIE were significantly decreased in patients with pre-operative GnRH agonist or progestin. There was no significant difference in 5HTT expression levels among untreated, GnRH agonist- and progestin-treated patients. CONCLUSION: The expression levels of TrKB and MOR genes in DIE appeared to be modulated by GnRH agonist or progestin. However, the functional roles of TrKB and MOR in DIE remain to be clarified. 相似文献
58.
Lay G Poquet Y Salek-Peyron P Puissegur MP Botanch C Bon H Levillain F Duteyrat JL Emile JF Altare F 《The Journal of pathology》2007,211(1):76-85
Tuberculosis is characterized by a tight interplay between Mycobacterium tuberculosis (M. tb) and host cells within granulomas. These cellular aggregates restrain M. tb spreading but do not kill all bacilli, which persist for years. A more detailed investigation of the interaction between M. tb and granuloma cells is needed to improve our understanding of this persistence and to explain the physiopathology of tuberculosis. In the present study, a recently developed in vitro human model of tuberculous granulomas has been used to analyse the modulation of granuloma cell differentiation by M. tb, in comparison to poorly virulent mycobacteria, which do not persist. It is reported that whilst all mycobacteria species induce granuloma formation, only M. tb triggers the differentiation of granuloma macrophages into very large multinucleated giant cells (MGCs) that are unable to mediate any bacterial uptake. This loss of function is not due to cell quiescence, as MGCs still display NADPH oxidase activity, but it correlates with decreased expression of phagocytosis receptors. This phenomenon is specific for the virulent species of M. tuberculosis complex, as poorly virulent species only induce the formation of small multinucleated cells (MCs) with conserved mycobacterial uptake ability, which never reach the MGC differentiation stage. The phenotype of MGCs thus strongly resembles mature dendritic cells with a loss of microbial uptake ability, despite conserved antigen presentation. In M. tb-induced granulomas, MGCs thus seem to be devoted to the destruction of bacilli that have been ingested in previous differentiation stages, ie in macrophages and MCs. 相似文献
59.
Tsai PH Fuh JL Lirng JF Wang SJ 《Cephalalgia : an international journal of headache》2007,27(8):929-934
We performed whole-spine heavily T2-weighted magnetic resonance (MR) myelography using a single-shot fast spin-echo pulse sequence in 17 patients (8 M/9 F) with spontaneous intracranial hypotension (SIH) to detect abnormal cerebrospinal fluid (CSF) collections. In addition, a group of age- and sex-matched controls were recruited. Follow-up MR myelography was also done at 3 weeks. MR myelography showed three kinds of abnormal CSF collections in 15 patients with SIH (88%): epidural fluid collection (n = 15, 88%), C1-2 extraspinal collections (n = 6, 35%) and CSF collections along nerve roots in the lower cervical or upper thoracic spines (n = 6, 35%). One patient (6%) showed a meningeal diverticulum. In contrast, none of the controls showed these findings. Overall, MR myelography results helped in early diagnosis of SIH in four (24%) patients whose initial brain MRIs failed to show typical SIH findings. Follow-up MR myelography results were compatible with the clinical changes with kappa statistics of 0.52 and an agreement rate of 76%. Our study showed heavily T2-weighted MR myelography provided a rapid, non-invasive and high yield method to diagnose and follow-up patients with SIH. Whether the CSF collections along the nerve roots represent the ongoing leakage sites warrants further study. 相似文献
60.
Primary stabbing headache (PSH) is a short-lasting but troublesome headache disorder which has been known for several decades. We surveyed and registered consecutive patients with PSH in a headache clinic in Taiwan. A total of 80 patients (24 M/56 F, 53.2 +/- 16.2 years) were enrolled in our study. Migraine was reported in 20 (25%) patients and was less common in those with PSH onset at >50 years than those with onset at <50 years (14% vs. 38%, P = 0.02). The headache was unilateral in 59% of the patients and always in a fixed area in 36%. The head pain frequently involved extratrigeminal regions (70%) and in 30 patients (38%) was accompanied by jolts, i.e. head or body movements. Indomethacin was effective (74%) in patients who received it. Our study showed primary stabbing headache was a common and easily treated headache disorder in headache clinic. However, 70% of our patients could not fulfil criterion A 'exclusively or predominantly in the distribution of the first division of the trigeminal nerve' and 15% could not fulfil criterion C 'no accompanying symptoms' of the International Classification of Headache Disorders-II criteria proposed for PSH. 相似文献