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991.
Reduced expression of CAMTA1 correlates with adverse outcome in neuroblastoma patients. 总被引:2,自引:0,他引:2
992.
Ermisch B Gross O Netzer KO Weber M Brandis M Zimmerhackl LB 《Pediatric nephrology (Berlin, Germany)》2000,14(8-9):758-761
Alport syndrome (AS) is a genetic disorder of basement membranes caused by mutations in type IV collagen genes that is characterized
by chronic hematuria and progressive nephropathy leading to renal failure. The main extrarenal features include sensorineural
hearing loss and ocular lesions. The mode of inheritance is X-linked dominant in about 80%–85% of the affected families, whereas
autosomal transmission is rarely encountered. We report a male patient originating from a healthy consanguineous Lebanese
family who presented with an unusual association of obstructive uropathy and AS. Hematuria and proteinuria were initially
attributed to a suspected poststreptococcal glomerulonephritis (GN) and high-grade subpelvic ureteral stenosis. Persistence
of symptoms after medical treatment of poststreptococcal GN and surgical correction of obstructive uropathy finally led to
renal biopsy. The observed ultrastructural changes of the glomerular basement membrane were typical for AS.Molecular genetic
studies revealed a previously undescribed de novo mutation in the COL4A5 gene, excluding maternal heterozygotic carrier status. This case report emphasizes the importance of hereditary nephritis
in the differential diagnosis of chronic hematuria, and demonstrates the value of molecular studies for genetic counselling
in AS.
Received: 9 October 1998 / Revised: 15 February 1999 / Accepted: 24 August 1999 相似文献
993.
Rolf Haaker Roland Willburger Matthias Wiese 《Operative Orthopadie und Traumatologie》2000,12(3):247-255
Zusammenfassung Operationsziel Minimal invasive Entfernung der Bursa trochanterica, gegebenenfalls mit Exostosenresektion und/oder Traktopexie am Trochanter major. Indikationen Chronische, konservativ ausbehandelte Bursitis trochanterica. Bursitis bei Coxa saltans oder infolge Spornbildung am Trochanter major. Kontraindikationen Bakterielle oder rheumatische Bursitis trochanterica. Operationstechnik Über je eine Stichinzision proximal, distal und leicht dorsal der Trochanterspitze wird Spülflüssigkeit (Purisole®) epitrochantär eingebracht; die Fascia lata wird unter endoskopischer Sicht gespalten. Subtotale Bursektomie mit dem Synovialisresektor. Bedarfsweise Erweiterung des Eingriffs um eine Traktopexie mit resorbierbaren "Ankern" ist möglich. Ergebnisse Insgesamt 34 Patienten (28 weiblich, sechs männlich, Durchschnittsalter 57,8 Jahre) wurden seit 1995 operiert. Die ersten 20 Patienten (18 weiblich, zwei männlich, Durchschnittsalter 52,6 Jahre) konnten nach 20 (zwölf bis 36) Monaten nachuntersucht werden. 15 Patienten waren mit dem Resultat zufrieden. Der Schmerzwert sank in der visuellen Analogskala von 8,9 Punkten präoperativ (10 = stärkster Schmerz) auf 5,2 Punkte postoperativ und 4,3 zum Zeitpunkt der Nachkontrolle. Komplikationen: eine sekundäre Heilung im Bereich einer Stichinzision. Summary Objectives Minimally invasive surgical procedure for removal of the trochanteric bursa and, if necessary, exostosectomy and/or fixation of the iliotibial tract at the greater trochanter. Indications Chronic, unsuccessfully treated trochanteric bursitis. Bursitis caused by snapping hip or due to exostosis at the greater trochanter. Contraindications Infected bursitis or bursitis in rheumatoid patients. Surgical Technique Through 2 approaches, cranial and caudal and slightly posterior to the tip of the trochanter, infiltration of the epitrochanteric area with saline (Purisole®); the iliotibial tract is divided under endoscopic control. Subtotal removal of the trochanteric bursa using a synovial resector. If necessary, the procedure can be extended to include a fixation of the tract with resorbable suture anchors. Results Since June 1995, we performed an endoscopic bursectomy in 34 patients (28 women and 6 men, average age 57.8 years). The first 20 patients (18 women and 2 men, average age 52.6 years) had an average follow-up of 20 (12 to 36) months. Fifteen patients were satisfied with the result. The degree of pain and functional handicap was assessed using a visual analog scale (10 points for intense pain). This pain score amounted to 8.9 points before surgery, to 5.2 postoperatively, and to 4.3 at follow-up. One instance of secondary healing was seen in a stab incision. 相似文献
994.
Peter Brnert Matthias Stuber Ren M. Botnar Kraig V. Kissinger Peter Koken Elmar Spuentrup Warren J. Manning 《Magnetic resonance in medicine》2001,46(4):789-794
While 3D thin-slab coronary magnetic resonance angiography (MRA) has traditionally been performed using a Cartesian acquisition scheme, spiral k-space data acquisition offers several potential advantages. However, these strategies have not been directly compared in the same subjects using similar methodologies. Thus, in the present study a comparison was made between 3D coronary MRA using Cartesian segmented k-space gradient-echo and spiral k-space data acquisition schemes. In both approaches the same spatial resolution was used and data were acquired during free breathing using navigator gating and prospective slice tracking. Magnetization preparation (T(2) preparation and fat suppression) was applied to increase the contrast. For spiral imaging two different examinations were performed, using one or two spiral interleaves, during each R-R interval. Spiral acquisitions were found to be superior to the Cartesian scheme with respect to the signal-to-noise ratio (SNR) and contrast-to-noise-ratio (CNR) (both P < 0.001) and image quality. The single spiral per R-R interval acquisition had the same total scan duration as the Cartesian acquisition, but the single spiral had the best image quality and a 2.6-fold increase in SNR. The double-interleaf spiral approach showed a 50% reduction in scanning time, a 1.8-fold increase in SNR, and similar image quality when compared to the standard Cartesian approach. Spiral 3D coronary MRA appears to be preferable to the Cartesian scheme. The increase in SNR may be "traded" for either shorter scanning times using multiple consecutive spiral interleaves, or for enhanced spatial resolution. 相似文献
995.
Streptococcus pyogenes is a very uncommon cause of bacterial meningitis beyond the neonatal period. A case report and a review of the recent literature
is presented. We report on a previously healthy 7-year-old boy who developed S. pyogenes meningitis following a 2-day history of otitis media. A CT scan revealed right-sided mastoiditis as a possible focus of infection.
The patient was treated with penicillin G for 14 days. The clinical course was uneventful, and he recovered without sequelae.
By means of the polymerase chain reaction, the presence of streptococcal pyrogenic exotoxin (SPE) B and SPE C, but not SPE
A genes was discovered from the bacterial DNA.
Conclusion
Streptococcus pyogenes is a rare cause of bacterial meningitis but has to be considered as the causative pathogen beyond the neonatal period.
Received: 17 May 1999 / Accepted: 4 January 2000 相似文献
996.
997.
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999.
Michael Honer Matthias Brühlmeier John Missimer August P Schubiger Simon M Ametamey 《Journal of nuclear medicine》2004,45(3):464-470
The novel, dedicated small animal PET tomograph, quad-HIDAC, offers submillimeter resolution in instrumental characterization experiments. The aim of this study was to establish the tomograph's utility in a biologic application and to demonstrate the feasibility of rapid dynamic neuroreceptor imaging in mice. METHODS: We used the well-established, high-affinity dopamine D(2) receptor PET ligand (18)F-fallypride for imaging striatal D(2) receptors in NMRI mice. Dynamic PET data were acquired using the quad-HIDAC tomograph and subject to 2 different kinetic modeling approaches. The cerebellum, a brain region devoid of D(2) receptors, was chosen as a reference region for kinetic modeling. RESULTS: The resolution of the quad-HIDAC camera allowed clear visualization of the left and right mouse striatum with high target-to-nontarget signal ratios. The sensitivity of the tomograph permitted the generation of time-activity curves with initial time frames of 120 s. PET experiments acquiring data for 150 min demonstrated that the binding potential of (18)F-fallypride could be fitted robustly with both reference tissue models for scan durations of >or=40 min. Voxel-wise modeling resulted in parametric maps of high quality. The values for the binding potential in the striatum reached approximately 14, consistent with striatum-to-cerebellum ratios extracted from regional time-activity curves. Comparison of in vivo PET imaging results with ex vivo postmortem tissue sampling analyses indicated discrepancies in signal intensity, possibly resulting from scatter and random background in the cerebellum region of interest and leading to an overestimation of cerebellar activity concentrations and degradation of striatum-to-cerebellum ratios in PET experiments. Intraperitoneal injection of the unlabeled D(2) receptor antagonist haloperidol 30 min before intravenous injection of (18)F-fallypride blocked tracer accumulation in the striatum by >95%. CONCLUSION: The quad-HIDAC camera represents a powerful tool for future dynamic neuroreceptor PET studies in mice and rats under numerous pharmacologic or pathophysiologic conditions. 相似文献
1000.
Ahmed I. Bhigjee Pierre L. A. Bill Clayton A. Wiley Isobel M. Windsor Denise A. Matthias Tatsuhiko Amenomori William Wachsman David Moorhouse 《Muscle & nerve》1993,16(1):21-26
Peripheral nerve dysfunction (PND) was found in as many as 43% of our patients with human T-cell lymphotropic virus type I (HTLV-I)–associated myelopathy (HAM/TSP). To evaluate the PND further we biopsied the sural nerve in 6 patients. The histological features were varying degrees of demyelination, remyelination, axonal atrophy and degeneration, and perineurial fibrosis. “Globule” or “sausage” formation was prominent in two of the specimens. Inflammatory infiltrates were absent. No deposits of IgG, IgM, IgA, or complement were detected in the biopsies. No viral antigen or proviral DNA was detected. It is proposed that the PND and the histological findings noted are part of HTLV-I–associated disease and not an unrelated disorder. The pathogenesis of the PND remains unclear. There was no evidence of direct viral infection. The histological findings could represent primary changes induced by viral-triggered release of soluble factors, such as cytokines or secondary changes to more proximal disease, e.g., root involvement. © 1993 John Wiley & Sons, Inc. 相似文献