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101.
Avnish Tripathi George B. Black Yong-Moon Mark Park Jeanette M. Jerrell 《Pediatric cardiology》2014,35(2):368-373
In patients with congenital heart disease (CHD), the association between supraventricular tachycardia (SVT), type of pathophysiology, and therapeutic interventions in a population-based cohort warrants further examination. A retrospective, longitudinal 15-year data set (1996–2010) was analyzed. Inclusion criteria included age ≤17 years, enrolled in South Carolina State Medicaid, and diagnosed as having one or more CHDs as well as SVT. SVT was diagnosed in 6.5 % of CHD patients (N = 1,169) during the 15-year epoch investigated. SVT was less likely to occur in African-American (hazard ratio [HR] = 0.76) or male patients (HR = 0.88), but it was significantly more likely to occur in patients age ≤12 months or in adolescents ≥13 years in those undergoing multiple surgeries/medical interventions for their CHD (HR = 1.14), those receiving antiarrhythmic/diuretic/preload-/afterload-reducing medications (HR = 5.46), and those with severe/cyanotic CHDs (HR = 1.52) or chromosomal abnormalities (HR = 1.64). Children who had an atrial septal defect secundum (adjusted odds ratio [aOR] = 3.03) and those treated with diuretic or antiarrhythmic medication (aOR = 1.80) were significantly more likely to undergo SVT ablation, whereas those with late-onset pulmonary hypertension (ages 6–12 years old) were significantly less likely to undergo SVT ablation. SVT recurred in only 14 of 166 patients who underwent SVT ablation. Multiple medical interventions at an early age may increase the risk of SVT occurrence in young CHD patients regardless of the severity/complexity of the CHD. 相似文献
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Jeanette J. A. Holden Maryse Chalifoux Maggie Wing Colin Julien-Inalsingh Bradley N. White 《American journal of medical genetics. Part A》1996,64(2):313-318
We used a rapid and inexpensive method for studying the FMR1 CGG-repeat from dried blood spots, prepared from heel pricks, finger pricks, or an aliquot of blood from a venipuncture. The procedure includes a single tube for preparation of template DNA for PCR and minimal handling, avoiding opportunities for mislabelling specimens and loss of template. We extended the protocol to numerous di- and trinucleotide repeat markers and disease loci, including FRAXE, FRAXF, DXS548, DRPLA, and ZFY. The use of a highly reliable and very inexpensive method which employs blood spots as a source for target DNA means that newborn Guthrie cards can be used to establish allele frequencies for linkage disequilibrium studies, that large populations can be screened for genetic disorders, and that mapping studies can proceed rapidly even when only small amounts of blood are available from key family members. © 1996 Wiley-Liss, Inc. 相似文献
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Samantha A. Chalmers Rajalakshmy Ayilam Ramachandran Sayra J. Garcia Evan Der Leal Herlitz Jeanette Ampudia Dalena Chu Nicole Jordan Ting Zhang Ioannis Parodis Iva Gunnarsson Huihua Ding Nan Shen Michelle Petri Chi Chiu Mok Ramesh Saxena Krishna R. Polu Stephen Connelly Cherie T. Ng Chandra Mohan Chaim Putterman 《The Journal of clinical investigation》2022,132(1)
T cells are central to the pathogenesis of lupus nephritis (LN), a common complication of systemic lupus erythematosus (SLE). CD6 and its ligand, activated leukocyte cell adhesion molecule (ALCAM), are involved in T cell activation and trafficking. Previously, we showed that soluble ALCAM is increased in urine (uALCAM) of patients with LN, suggesting that this pathway contributes to disease. To investigate, uALCAM was examined in 1038 patients with SLE and LN from 5 ethnically diverse cohorts; CD6 and ALCAM expression was assessed in LN kidney cells; and disease contribution was tested via antibody blockade of CD6 in murine models of SLE and acute glomerulonephritis. Extended cohort analysis offered resounding validation of uALCAM as a biomarker that distinguishes active renal involvement in SLE, irrespective of ethnicity. ALCAM was expressed by renal structural cells whereas CD6 expression was exclusive to T cells, with elevated numbers of CD6+ and ALCAM+ cells in patients with LN. CD6 blockade in models of spontaneous lupus and immune-complex glomerulonephritis revealed significant decreases in immune cells, inflammatory markers, and disease measures. Our data demonstrate the contribution of the CD6/ALCAM pathway to LN and SLE, supporting its use as a disease biomarker and therapeutic target. 相似文献
106.
Line Kenborg Karen M. Linnet Sofie de Fine Licht Andrea Bautz Anna S. Holmqvist Laufey Tryggvadottir Laura M. Madanat-Harjuoja Marilyn Stovall Carsten Heilmann Vanna Albieri Henrik Hasle Jeanette F. Winther 《International journal of cancer. Journal international du cancer》2020,146(3):819-828
Large, comprehensive studies of the risk for neurologic disorders among long-term survivors of noncentral nervous system (CNS) childhood cancers are lacking. Thus, the aim of our study was to assess the lifetime risk of Nordic non-CNS childhood cancer survivors for neurologic disorders. We identified 15,967 5-year survivors of non-CNS childhood cancer diagnosed in Denmark, Iceland, Finland and Sweden in 1943–2008, and 151,118 matched population comparison subjects. In-patient discharge diagnoses of neurologic disorders were used to calculate relative risks (RRs) and absolute excess risks (AERs). A neurologic disorder was diagnosed in 755 of the survivors while 370 were expected, yielding a RR of 2.0 (95% confidence interval (CI) 1.9–2.2). The highest risks were found among survivors of neuroblastoma (4.1; 95% CI 3.2–5.3) and leukemia (2.8; 95% CI 2.4–3.2). The AER decreased from 331 (278–383) excess neurologic disorders per 100,000 person-years 5–9 years after diagnosis to 82 (46–118) ≥ 20 years after diagnosis. Epilepsy was the most common diagnosis (n = 229, 1.4% of all survivors), and significantly increased risks were seen among survivors of eight out of 12 types of childhood cancer. Survivors of neuroblastoma had remarkably high risks (RR ≥ 10) for hospitalization for paralytic syndromes and hydrocephalus, while survivors of leukemia had additional high risks for dementia and encephalopathy. In conclusion, survivors of non-CNS childhood cancer are at high risk for neurologic disorders, especially within the first decade after diagnosis. Therefore, intensive follow-up to identify those who require close management is needed. 相似文献
107.
John P. Stratis Jeanette C. Ramer Ernest K. Manders Ralph A. Lehman Roger L. Ladda 《American journal of medical genetics. Part A》1992,44(2):197-199
A large frontal bone defect underlying a “V” shaped scar was noted in a newborn male whose mother had an identical “V” shaped scar at the same location in the anterior hairline. Both had hypertelorism and short palpebral fissures. The mother had no radio-graphic evidence of skull defect and neither mother nor child had other cutaneous or skeletal anomalies. Cranioplasty was performed on the child using the remaining frontal bones with an excellent cosmetic result. Biopsy performed at operation documented scar tissue extending through the dermis and underlain by thickened dura. Mother and child appear to have a variant form of aplasia cutis congenita, an autosomal dominant trait with wide variation in expression. © 1992 Wiley-Liss, Inc. 相似文献
108.
109.
Topographic analysis of the cornea and computation of changes in corneal topography is difficult because of the lack of a standardized concept for analysing topographic information. We have used Fourier series harmonic analysis to decompose the often very complex information given in topographic images (TMS-1 video-keratograph). The polar data values arising from each mire were separated into spherical (average power), regular astigmatic (2′ harmonic) and non-regular astigmatic components. The non-regular astigmatic components were further divided into a decentration component (1′ harmonic) and a higher order irregular refractive component (root mean square (r.m.s.) of the residual between original data and the sum of spherical, 1′ and 2′ order components). Algorithms for utilizing the Fourier analysis technique on subjective refractive and on keratometric changes in regular astigmatism were also derived. Averages of the separate refractive components were calculated for groups of normal (right and left eye of 25 patients), keratoconic (13 eyes), and transplanted eyes (20 eyes), and average topographic maps were reconstructed and imaged. Changes in the separate topographic refractive components were compared with subjective refractive changes in eyes that had undergone combined myopic-astigmatic excimer laser ablation (8 eyes). Fourier series analysis was found superior to conventional keratometry in predicting spherical and regular astigmatic changes in subjective refraction. Fourier series analysis seems to be a powerful tool to decompose the information of complex topographic corneal images into rational optical components. 相似文献
110.
Type I interferons in the treatment of pancreatic cancer: mechanisms of action and role of related receptors 总被引:1,自引:0,他引:1 下载免费PDF全文
Vitale G van Eijck CH van Koetsveld Ing PM Erdmann JI Speel EJ van der Wansem Ing K Mooij DM Colao A Lombardi G Croze E Lamberts SW Hofland LJ 《Annals of surgery》2007,246(2):259-268
OBJECTIVE: We evaluated the role of type I interferons (IFNs) and IFN receptors in the regulation of cell growth in 3 human pancreatic adenocarcinoma cell lines (BxPC-3, MiaPaCa-2, and Panc-1). BACKGROUND: Chemotherapy and radiotherapy have a marginal role in the management of pancreatic adenocarcinoma. The addition of IFN-alpha showed promising results in early clinical trials. METHODS: Cell proliferation and apoptosis were evaluated by DNA measurement and DNA fragmentation, respectively. Type I IFN receptor (IFNAR-1 and IFNAR-2 subunits) was determined by quantitative RT-PCR and immunocytochemistry. Cell cycle distribution was evaluated by propidium iodide staining and flow-cytometric analysis. RESULTS: The incubation with IFN-beta for 6 days showed a potent inhibitory effect on the proliferation of BxPC-3 (IC(50), 14 IU/mL) and MiaPaCa-2 (IC(50), 64 IU/mL). The inhibitory effect of IFN-beta was stronger than IFN-alpha in all 3 cell lines and mainly modulated by the stimulation of apoptosis, although cell cycle arrest was induced as well. The expression of the type I IFN receptors was significantly higher in BxPC-3 (the most sensitive cell line to IFN) and mainly localized on the membrane, whereas in Panc-1 (the most resistant cell line) about 60% to 70% of cells were negative for IFNAR-2c with a mainly cytoplasmic staining for IFNAR-2c. CONCLUSION: The antitumor activity of IFN-beta is more potent than IFN-alpha in pancreatic cancer cell lines through the induction of apoptosis. Further studies should investigate in vivo whether the intensity and distribution of IFNAR-1 and IFNAR-2c may predict the response to therapy with IFN-alpha and IFN-beta in pancreatic cancer. 相似文献