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排序方式: 共有614条查询结果,搜索用时 15 毫秒
1.
Total anorectal reconstruction with a double dynamic graciloplasty after abdominoperineal reconstruction for low rectal cancer 总被引:7,自引:3,他引:4
Bastiaan P. Geerdes M.D. Frans A. N. Zoetmulder M.D. Ph.D Erik Heineman M.D. Ph.D. Egbert J. Vos M.Sc. Mart -Jan Rongen M.D. Cor G. M. I. Baeten M.D. Ph.D. 《Diseases of the colon and rectum》1997,40(6):698-705
PURPOSE: Total anorectal reconstruction with a double dynamic graciloplasty was performed after abdominoperineal reconstruction
(APR) for low rectal cancer. In four patients an additional pouch was constructed to improve neorectal motility and capacity.
The aim of this study was to evaluate the results in the first 20 patients and to report on the preliminary results of patients
with an additional pouch. METHODS: Twenty patients with a mean age of 52 (range, 25–71) years and a rectal tumor at a mean
of 3 (range, 0–5) cm from the anal verge were treated. In 14 patients the Miles resection, colon pull-through, and construction
of a neosphincter were performed in one session. Six patients had the double graciloplasty at an average of 4.1 (range, 1.1–8.8)
years after APR. In four patients a pouch was constructed with an isolated segment of distal ileum. RESULTS: After a mean
follow-up of 24 (range, 1–60) months after APR, none of the patients developed local recurrence, whereas four patients developed
distant metastasis. Fifteen of 20 patients were available for evaluation, and 5 patients were still in training. Of these
15 patients, 8 patients were continent (53 percent), 2 patients were incontinent, and in 5 patients the perineal stoma was
converted to an abdominal stoma. Failures were attributable to necrosis of the colon stump (n=2) and incontinence (n=3). At
26 weeks mean resting pressure was 44 (standard deviation (SD), 28) mmHg, and mean pressure during stimulation was 90 (SD,
46) mmHg at a mean of 35 (SD, 1.2) volts at 52 weeks. Mean defecation frequency was three times per day (range, 1–5). Of the
eight patients who were continent, six used daily enemas. Mean time to postpone defecation was 11 (range, 0–30) minutes. CONCLUSION:
In experienced hands, the double dynamic graciloplasty is an oncologically safe procedure that can have an acceptable functional
outcome in a well-selected group of patients. However, to improve the outcome, further modifications will be necessary. So
far, the addition of a pouch has not resulted in improved outcome.
Supported by the Profileringsfonds of the Maastricht University Hospital, The Netherlands, and by the Stichting Fondsenwervingsactie
Volksgezondheid, Amsterdam, The Netherlands.
Read in part at the meeting of The American Society of Colon and Rectal Surgeons, Seattle, Washington, June 9 to 14, 1995. 相似文献
2.
Jasper E Visser Bastiaan R Bloem Bart P C van de Warrenburg 《Movement disorders》2007,22(7):1024-1026
Progressive myoclonic ataxia, also referred to as Ramsay Hunt syndrome, is characterized by a combination of myoclonus and cerebellar ataxia, infrequently accompanied by tonic-clonic seizures. Its differential diagnosis overlaps with progressive myoclonic epilepsy, a syndrome with myoclonus, tonic-clonic seizures, progressive ataxia and dementia. In patients with progressive myoclonic epilepsy, specific diseases can frequently be recognized, but the diagnostic yield in progressive myoclonic ataxia is much lower. We describe a patient who presented with multifocal myoclonus in his thirties and who later developed cerebellar ataxia and focal dystonia. His father was similarly affected. Genetic studies revealed a mutation in the protein kinase C gamma (PRKCG) gene, known to cause spinocerebellar ataxia type 14 (SCA-14). This case illustrates that both myoclonus and dystonia are part of the clinical spectrum in SCA-14 and that myoclonus can even be the presenting symptom. We suggest that SCA-14 should be considered in the differential diagnosis of progressive myoclonic ataxia. 相似文献
3.
Bastiaan R Klarenbeek Alexander AFA Veenhof Elly SM de Lange Willem A Bemelman Roberto Bergamaschi Piet Heres Antonio M Lacy Wim T van den Broek Donald L van der Peet Miguel A Cuesta 《BMC surgery》2007,7(1):16
Backround
Diverticulosis is a common disease in the western society with an incidence of 33–66%. 10–25% of these patients will develop diverticulitis. In order to prevent a high-risk acute operation it is advised to perform elective sigmoid resection after two episodes of diverticulitis in the elderly patient or after one episode in the younger (< 50 years) patient. Open sigmoid resection is still the gold standard, but laparoscopic colon resections seem to have certain advantages over open procedures. On the other hand, a double blind investigation has never been performed. The Sigma-trial is designed to evaluate the presumed advantages of laparoscopic over open sigmoid resections in patients with symptomatic diverticulitis. 相似文献4.
Bastiaan Driehuys Julia Walker Jim Pollaro Gary P Cofer Nilesh Mistry David Schwartz G Allan Johnson 《Magnetic resonance in medicine》2007,58(5):893-900
In the study of asthma, a vital role is played by mouse models, because knockout or transgenic methods can be used to alter disease pathways and identify therapeutic targets that affect lung function. Assessment of lung function in rodents by available methods is insensitive because these techniques lack regional specificity. A more sensitive method for evaluating lung function in human asthma patients uses hyperpolarized (HP) (3)He MRI before and after bronchoconstriction induced by methacholine (MCh). We now report the ability to perform such (3)He imaging of MCh response in mice, where voxels must be approximately 3000 times smaller than in humans and (3)He diffusion becomes an impediment to resolving the airways. We show three-dimensional (3D) images that reveal airway structure down to the fifth branching and visualize ventilation at a resolution of 125 x 125 x 1000 microm(3). Images of ovalbumin (OVA)-sensitized mice acquired after MCh show both airway closure and ventilation loss. To also observe the MCh response in naive mice, we developed a non-slice-selective 2D protocol with 187 x 187 microm(2) resolution that was fast enough to record the MCh response and recovery with 12-s temporal resolution. The extension of (3)He MRI to mouse models should make it a valuable translational tool in asthma research. 相似文献
5.
Psychogenic gait disorders can present in many different ways. Among patients with a pure psychogenic gait disorder, buckling of the knee is the most common feature, followed by astasia-abasia. Here, we describe one such patient with a very unusual gait disturbance that might be regarded as a variant of astasia-abasia. The patient characteristics are described and discussed in a historical context. 相似文献
6.
Heijmans BT Beekman M Putter H Lakenberg N van der Wijk HJ Whitfield JB Posthuma D Pedersen NL Martin NG Boomsma DI Slagboom PE 《European journal of human genetics : EJHG》2005,13(10):1143-1153
Lipid levels in plasma strongly influence the risk for coronary heart disease. To localise and subsequently identify genes affecting lipid levels, we performed four genome-wide linkage scans followed by combined linkage/association analysis. Genome-scans were performed in 701 dizygotic twin pairs from four samples with data on plasma levels of HDL- and LDL-cholesterol and their major protein constituents, apolipoprotein AI (ApoAI) and Apolipoprotein B (ApoB). To maximise power, the genome scans were analysed simultaneously using a well-established meta-analysis method that was newly applied to linkage analysis. Overall LOD scores were estimated using the means of the sample-specific quantitative trait locus (QTL) effects inversely weighted by the standard errors obtained using an inverse regression method. Possible heterogeneity was accounted for with a random effects model. Suggestive linkage for HDL-C was observed on 8p23.1 and 12q21.2 and for ApoAI on 1q21.3. For LDL-C and ApoB, linkage regions frequently coincided (2p24.1, 2q32.1, 19p13.2 and 19q13.31). Six of the putative QTLs replicated previous findings. After fine mapping, three maximum LOD scores mapped within 1 cM of major candidate genes, namely APOB (LOD=2.1), LDLR (LOD=1.9) and APOE (LOD=1.7). APOB haplotypes explained 27% of the QTL effect observed for LDL-C on 2p24.1 and reduced the LOD-score by 0.82. Accounting for the effect of the LDLR and APOE haplotypes did not change the LOD score close to the LDLR gene but abolished the linkage signal at the APOE gene. In conclusion, application of a new meta-analysis approach maximised the power to detect QTLs for lipid levels and improved the precision of their location estimate. 相似文献
7.
Brief report: cognitive functioning in children with Tourette's syndrome with and without comorbid ADHD 总被引:12,自引:0,他引:12
Brand N Geenen R Oudenhoven M Lindenborn B van der Ree A Cohen-Kettenis P Buitelaar JK 《Journal of pediatric psychology》2002,27(2):203-208
OBJECTIVE: To examine whether patients with Tourette's syndrome (TS) with and without comorbid attention deficit and hyperactivity disorder (ADHD) differ in cognitive functioning and whether a higher level of cognitive functioning is associated with severity of TS symptoms and psychosocial functioning. METHODS: Cognitive functioning, symptom severity, and psychosocial functioning were examined in 40 patients (33 boys, 7 girls; age range 6-18 years) with TS, of whom 17 had the comorbid diagnosis of ADHD. RESULTS: Patients with a comorbid ADHD diagnosis evidenced poorer performance than those with TS alone with respect to severity of TS symptoms, psychosocial functioning, verbal and performance intelligence, and word fluency, but not on tests of cognitive flexibility. Psychosocial functioning was predicted by symptom severity, but not by intelligence or fluency. CONCLUSIONS: Results confirm prior findings that comorbid ADHD is associated with more TS symptoms and worse psychosocial and cognitive functioning, and motivate whether cognitive flexibility plays a role in moderating the deleterious psychosocial effects of Tourette's syndrome and ADHD. 相似文献
8.
Early-onset gastric carcinomas display molecular characteristics distinct from gastric carcinomas occurring at a later age 总被引:5,自引:0,他引:5
Carvalho R Milne AN van Rees BP Caspers E Cirnes L Figueiredo C Offerhaus GJ Weterman MA 《The Journal of pathology》2004,204(1):75-83
Gastric cancer is thought to result from a combination of environmental factors and accumulation of specific genetic alterations, and consequently mainly affects older patients (>50 years of age). Fewer than 10% of patients present with the disease before 45 years of age and these young patients are thought to develop carcinomas with a different molecular genetic profile from that of sporadic carcinomas occurring at a later age. Forty early-onset gastric carcinoma resection specimens were characterized for microsatellite instability (MSI) and loss of heterozygosity status using 22 polymorphic microsatellite markers. Twenty-four biopsies were additionally evaluated for the presence of MSI. No MSI was observed in any of the cases analysed. Losses were infrequent, but were most common for the D1S234 (26.1%) and D1S1676 (17.4%) markers, flanking the RUNX3 gene; for the p53ALU (23.1%) and TP53 (15.4%) markers, near the TP53 gene; and for the D16S2624 (17.2%) marker, near the E-cadherin (CDH1) gene. All cases with loss of CDH1, as well as 6/7 cases with loss of TP53, displayed aberrant staining of the corresponding proteins, pointing to a functional role for these proteins in early-onset gastric carcinogenesis. No germline CDH1, TP53 or RUNX3 mutations were detected in any of the cases analysed. No correlation was observed between non-functional E-cadherin and the histological type of the tumours analysed. Finally, Epstein-Barr virus was not detected in any of the cases analysed. On the basis of these results, early-onset gastric carcinomas appear to have characteristics distinct from gastric carcinomas occurring at a later age. 相似文献
9.
Coleman SL Buckland PR Hoogendoorn B Guy C Smith K O'Donovan MC 《Human molecular genetics》2002,11(16):1817-1821
The ability to identify and examine promoter elements is important to researchers who wish to understand how gene expression is regulated in normal and pathological states. Unfortunately, the number of human promoters that have been directly experimentally defined is small. In order to determine if promoter sequences can be identified by simply aligning mRNA and genomic sequences, we have used a reporter gene assay to assess the promoter activity of the immediate 5' region flanking 38 mRNAs mapping to chromosome 21. For comparison, we have measured the activities of 19 sequences not thought to be promoters and 39 sequences taken from the Eukaryotic Promoter Database. Our results suggest that alignment of reference mRNAs to genomic sequence allows promoters to be identified for at least 75% of genes. These data provide the first empirical evidence that the current state of annotation of the genome is sufficient to allow molecular geneticists to correctly identify promoter sequences for most genes for which reference mRNA and genomic sequences are available. 相似文献
10.
van Eeden S Offerhaus GJ Morsink FH van Rees BP Busch OR van Noesel CJ 《Virchows Archiv : an international journal of pathology》2004,444(6):590-593
Pyogenic granuloma is a lobular capillary hemangioma that mostly occurs on the skin, but it is also encountered on the mucosal surface of the oral cavity. Only a few cases in other parts of the digestive tract have been reported in Japanese patients. In this report, two Caucasian patients are described, who presented with gastrointestinal bleeding due to the presence of a pyogenic granuloma. One was located in the distal esophagus and could be treated with local excision and laser-photocoagulation therapy. The other one was located in the small intestine and was removed by surgical resection. Although extremely rare, pyogenic granuloma as a cause of gastrointestinal bleeding needs consideration. The lesion is benign, presumably reactive and can be adequately treated by excision or laser photocoagulation. Immunohistochemistry and/or polymerase chain reaction for herpesvirus 8 can reliably distinguish pyogenic granuloma from Kaposis sarcoma, an important differential diagnosis. 相似文献