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41.
Autopsy study of 17 newborn infants with lethal autosomal recessive disease presenting as growth retardation with lactic acidosis, Fanconi aminoaciduria, and hepatic hemosiderosis is reported. The patients succumbed between day 1 and 4 months of life; 9 patients died within the first month. All patients showed severe pathologic changes of liver with cholestasis in all livers. Extensive accumulation of stainable iron of the hepatocytes was present in 9/17 autopsy tissues and in two biopsy specimens. Moderate to abundant iron storage in the Kupffer cells was seen in all liver specimens. The amount of hepatocytic iron was high in livers up to 1 month of age and decreased thereafter. The general features and liver findings of this disorder suggest the name Growth Retardation Aminoaciduria Cholestasis Iron Overload, Lactacidosis and Early Death (GRACILE, OMIM 603358). Calcified concrements were seen in the medulla of 13/16 kidney specimens. Pancreas of 13/14 patients showed interstitial fibrosis and exocrine atrophy. Various pathologic findings such as renal tubular dysgenesis, paucity of hepatic bile ducts and iron storage in the macrophages of spleen and pulmonary alveoli were observed in some cases. Previous extensive clinical genetic and laboratory investigations have revealed that the patients had a previously unrecognized genetic disease. It is inherited as an autosomal recessive trait. The gene locus is 2q 33-37. The basic defect of the disease remains unknown. 相似文献
42.
Affective and psychotic symptoms relate to different types of P300 alteration in depressive disorder 总被引:12,自引:0,他引:12
Kaustio O Partanen J Valkonen-Korhonen M Viinamäki H Lehtonen J 《Journal of affective disorders》2002,71(1-3):43-50
BACKGROUND: Previous findings of P300 alterations in depressive disorder have been controversial. We therefore used multivariate methods to study the relationship between P300 and affective and psychotic symptoms in depressive disorder. METHODS: The P300 of 22 psychotropic drug-free depressed out-patients was registered within an auditory oddball paradigm. Affective and psychotic symptoms were evaluated using the depression and psychoticism subscales of SCL-90. The relationship of P300 amplitude and latency with affective and psychotic symptoms was assessed with multiple linear regression analysis and ANOVA. P300 values of the depressed patients were also compared with those of 22 healthy controls. RESULTS: Psychotic symptoms were associated with an overall reduction in P300 amplitude, which was pronounced in the left temporocentral electrode chain (T3, C3, Cz). Psychotic symptoms were also associated with a prolonged P300 latency. Affective symptoms were associated with a relational amplitude reduction at the right temporal scalp sites. There were no statistically significant differences in P300 amplitude or latency between depressed and control-subjects. LIMITATIONS: Rather small number of study subjects. The psychotic scores were low in all subjects. Multiple statistical analyses were used, and no specific a priori hypothesis was tested. CONCLUSIONS: In depressive disorder, affective and psychotic symptoms are associated with different types of P300 alteration, which may indicate different underlying neurobiological processes. 相似文献
43.
Kaija Inkinen Henrik Wolff Pamela Lindroos Juhani Ahonen 《Connective tissue research》2013,54(1):19-29
Connective tissue growth factor (CTGF) is upregulated in a variety of fibrotic disorders, probably secondary to the activation and production of transforming growth factor-beta (TGF- g ). We have studied the expression of CTGF in a rat wound-healing model using Northern blot, in situ hybridization, and immunohistochemistry. The expression of CTGF mRNA in Northern blot and immunohistochemistry were correlated to the expression of TGF- g 1 and platelet-derived growth factor (PDGF). Northern hybridization showed the maximum expression of CTGF mRNA on day 14, whereas TGF- g 1 expression was maximal on days 7 and 14 and the time-related changes were smaller than for CTGF. PDGF A and PDGF B mRNA expressions were at maximum on day 14 and on day 21, respectively. In situ hybridization showed that fibroblast-like cells expressed CTGF most intensively, expression declining rapidly after day 14. CTGF mRNA and protein were found in blood vessel cells during the first week. In immunohistochemistry, all growth factors were expressed by fibroblast-like cells, macrophage-like cells, and blood vessels but CTGF-positive cells were fewer and were more restricted on days 5 and 7. These results demonstrate that CTGF expression together with TGF- g and PDGF are upregulated in wound healing, and CTGF expression in blood vessels suggests that CTGF is involved in angiogenesis. 相似文献
44.
Ritva Karhu Sakari Knuutila Olli-P. Kallioniemi Sanna Siitonen Risto Aine Leena Vilpo Juhani Vilpo 《Genes, chromosomes & cancer》1997,19(4):286-290
The genetic basis and molecular pathogenesis of chronic lymphocytic leukemia (CLL) and the molecular mechanisms responsible for its progression remain poorly understood. Here, karyotyping techniques specifically optimized for CLL, comparative genomic hybridization (CGH), and fluorescence in situ hybridization were used to search for CLL-specific genetic aberrations. CGH and karyotyping both revealed copy number changes in 12 of the 25 CLL cases (48%) analyzed. Loss at 11q emerged as the most common aberration (6 cases), followed by a gain of chromosome 12 (4) and loss at 13q (3). Concordance between CGH and G-banding was found in 23 of the 25 cases (92%), which is more than reported in a recent similar CGH study of CLL. Owing to the basic differences in G-banding and CGH, however, their simultaneous clinical application is recommended. The frequent loss of 11q14-24 suggests that this chromosomal region deserves further attention as a candidate locus involved in the pathogenesis of CLL. Genes Chromosom. Cancer 19:286–290, 1997. © 1997 Wiley-Liss, Inc. 相似文献
45.
Albert Flotats Juhani Knuuti Matthias Gutberlet Claudio Marcassa Frank M. Bengel Philippe A. Kaufmann Michael R. Rees Birger Hesse On behalf of the Cardiovascular Committee of the EANM the ESCR the ECNC 《European journal of nuclear medicine and molecular imaging》2011,38(1):201-212
Improvements in software and hardware have enabled the integration of dual imaging modalities into hybrid systems, which allow
combined acquisition of the different data sets. Integration of positron emission tomography (PET) and computed tomography
(CT) scanners into PET/CT systems has shown improvement in the management of patients with cancer over stand-alone acquired
CT and PET images. Hybrid cardiac imaging either with single photon emission computed tomography (SPECT) or PET combined with
CT depicts cardiac and vascular anatomical abnormalities and their physiologic consequences in a single setting and appears
to offer superior information compared with either stand-alone or side-by-side interpretation of the data sets in patients
with known or suspected coronary artery disease (CAD). Hybrid systems are also advantageous for the patient because of the
single short dual data acquisition. However, hybrid cardiac imaging has also generated controversy with regard to which patients
should undergo such integrated examination for clinical effectiveness and minimization of costs and radiation dose, and if
software-based fusion of images obtained separately would be a useful alternative. The European Association of Nuclear Medicine
(EANM), the European Society of Cardiac Radiology (ESCR) and the European Council of Nuclear Cardiology (ECNC) in this paper
want to present a position statement of the institutions on the current roles of SPECT/CT and PET/CT hybrid cardiac imaging
in patients with known or suspected CAD. 相似文献
46.
Airaksinen KE Biancari F Karjalainen P Mikkola R Kuttila K Porela P Laitio T Lip GY 《Thrombosis research》2011,128(5):435-439
Introduction
Therapeutic (international normalized ratio, INR 2.0-3.5) oral anticoagulation (TOAC) is assumed to increase perioperative bleeding complications and a standard recommendation is to discontinue warfarin before coronary bypass grafting (CABG).Materials and Methods
To assess the safety of TOAC we retrospectively analyzed consecutive patients (n = 270) with long-term warfarin therapy referred for CABG in two centers where TOAC strategy is employed. The main in-hospital outcomes of interest were death, stroke, acute myocardial infarction, new onset renal failure, resternotomy, and their composite. In the TOAC group of 103 patients CABG was performed during therapeutic oral anticoagulation and in the control group (81 patients) preoperative INR was lowered to a subtherapeutic (≤ 1.5) level.Results
The patients in TOAC group were more often operated on an emergency basis (p = 0.02) and their EuroSCORE was higher (p = 0.02). There were no significant differences in the major outcome events or their composite (17.5 vs. 11.1%, p = 0.30) between the groups. Patients in the TOAC group had more postoperative blood loss (941 ± 615 vs. 754 ± 610 ml, p < 0.01) and received more fresh frozen plasma (2.8 ± 3.0 vs. 1.3 ± 2.4 units, p < 0.001), but transfused red blood cells (2.1 ± 2.8 vs. 2.1 ± 3.4 units) were comparable in the groups. Preoperative clopidogrel (OR 4.8, 95% CI 1.4-16.2, p = 0.01) and enoxaparin therapy (OR 2.6, 95% CI 1.1-6.5, p = 0.04) were the only significant independent predictors for any major adverse event.Conclusions
Our study suggests that CABG is a safe procedure during TOAC with no excess bleeding or major complications. Prospective trials are needed to confirm this observation. 相似文献47.
Juhani Ojala Jukka Vanhanen Hanna Harno Pantelis Lioumis Selja Vaalto Mari A. Kaunisto Jukka Putaala Marko Kangasniemi Erika Kirveskari Jyrki P. Mäkelä Eija Kalso 《Neuromodulation》2022,25(4):538-548
ObjectivesCentral poststroke pain (CPSP), a neuropathic pain condition, is difficult to treat. Repetitive transcranial magnetic stimulation (rTMS) targeted to the primary motor cortex (M1) can alleviate the condition, but not all patients respond. We aimed to assess a promising alternative rTMS target, the secondary somatosensory cortex (S2), for CPSP treatment.Materials and MethodsThis prospective, randomized, double-blind, sham-controlled three-arm crossover trial assessed navigated rTMS (nrTMS) targeted to M1 and S2 (10 sessions, 5050 pulses per session at 10 Hz). Participants were evaluated for pain, depression, anxiety, health-related quality of life, upper limb function, and three plasticity-related gene polymorphisms including Dopamine D2 Receptor (DRD2). We monitored pain intensity and interference before and during stimulations and at one month. A conditioned pain modulation test was performed using the cold pressor test. This assessed the efficacy of the descending inhibitory system, which may transmit TMS effects in pain control.ResultsWe prescreened 73 patients, screened 29, and included 21, of whom 17 completed the trial. NrTMS targeted to S2 resulted in long-term (from baseline to one-month follow-up) pain intensity reduction of ≥30% in 18% (3/17) of participants. All stimulations showed a short-term effect on pain (17–20% pain relief), with no difference between M1, S2, or sham stimulations, indicating a strong placebo effect. Only nrTMS targeted to S2 resulted in a significant long-term pain intensity reduction (15% pain relief). The cold pressor test reduced CPSP pain intensity significantly (p = 0.001), indicating functioning descending inhibitory controls. The homozygous DRD2 T/T genotype is associated with the M1 stimulation response.ConclusionsS2 is a promising nrTMS target in the treatment of CPSP. The DRD2 T/T genotype might be a biomarker for M1 nrTMS response, but this needs confirmation from a larger study. 相似文献
48.
Tuija Männistö S. Ananth Karumanchi Anneli Pouta Marja Vääräsmäki Pauline Mendola Satu Miettola Heljä-Marja Surcel Aini Bloigu Aimo Ruokonen Marjo-Riitta Järvelin Anna-Liisa Hartikainen Eila Suvanto 《Pregnancy hypertension》2013,3(1):21-27
ObjectivesTo evaluate the effect of preeclampsia (PE) and gestational hypertension (GH) on subsequent hypothyroidism. Recent studies suggest that women with PE have increased risk for reduced thyroid function, but the association between PE and GH with overt hypothyroidism has not been examined.Study designTwo prospective population-based cohort studies, the Northern Finland Birth Cohorts 1966 and 1986, followed women who had PE (N = 955), GH (N = 1449) or were normotensive (N = 13531) during pregnancy. Finnish national registers were used to confirm subsequent hypothyroidism. Adjusted hazard ratios (aHRs) with 95% confidence intervals (CIs) estimated hypothyroidism risk when comparing women with PE or GH with normotensive women.Main outcome measuresPrimary hypothyroidism during follow-up of 20–40 years.ResultsThe subsequent prevalence of hypothyroidism was higher among women with PE (4.0%) and GH (4.5%) compared with normotensive women (3.5%), but the risk increase was not significant (aHR for PE 1.13, 95% CI 0.80–1.59 and aHR for GH 1.11, 95% CI 0.85–1.45).Subgroup analysis among nulliparous women revealed a significant association between late PE and subsequent hypothyroidism (aHR 1.82, 95% CI 1.04–3.19).Early or recurrent PE was not associated with hypothyroidism (aHR 0.93, 95% CI 0.46–1.81 and aHR 1.35, 95% CI 0.63–2.88, respectively).ConclusionsOverall, PE or GH during pregnancy was not significantly associated with subsequent hypothyroidism in Finnish women after 20–40 years of follow-up. However, late PE in nulliparous women was associated with a 1.8-fold increased risk of subsequent hypothyroidism, a finding that merits further study in other populations. 相似文献
49.
Pekka Kuittinen Timo Juhani Aalto Tapani Heikkil? Ville Leinonen Sakari Savolainen Petri Sipola Heikki Kr?ger Veli Turunen Olavi Airaksinen 《BMC musculoskeletal disorders》2012,13(1):1-5