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991.
Dietrich A Matejas V Bitzan M Hashmi S Kiraly-Borri C Lin SP Mildenberger E Hoppe B Palm L Shiihara T Steiss JO Tsai JD Vester U Weber S Wühl E Zepf K Zenker M 《Pediatric nephrology (Berlin, Germany)》2008,23(10):1779-1786
Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder characterized by early onset nephrotic syndrome and microcephaly with various anomalies of the central nervous system. GMS likely represents a heterogeneous group of disorders with hitherto unknown genetic etiology. The clinical phenotype to some extent overlaps that of Pierson syndrome (PS), which comprises congenital nephrotic syndrome and distinct ocular abnormalities but which may also include neurodevelopmental deficits and microcephaly. PS is caused by mutations of LAMB2, the gene encoding laminin beta2. We hypothesized that GMS might be allelic to PS or be caused by defects in proteins that interact with laminin beta2. In a cohort of 18 patients with GMS or a GMS-like phenotype we therefore analyzed the genes encoding laminin beta2 (LAMB2), laminin alpha5 (LAMA5), alpha3-integrin (ITGA3), beta1-integrin (ITGB1) and alpha-actinin-4 (ACTN4), but we failed to find causative mutations in these genes. We inferred that LAMA5, ITGA3, ITGB1, and ACTN4 are not directly involved in the pathogenesis of GMS. We excluded LAMB2 as a candidate gene for GMS. Further studies are required, including linkage analysis in families with GMS to identify genes underlying this disease. 相似文献
992.
Prelog M Schiefecker D Fille M Wurzner R Brunner A Zimmerhackl LB 《Pediatric nephrology (Berlin, Germany)》2008,23(4):597-602
The aim of this study was to characterize the pathogens and their antibiotic susceptibilities in defined groups of children
(total number 694) with urinary tract infection (UTI) regarding age, first UTI (FUTI) or recurrent UTI (RUTI), renal abnormalities
or vesico-ureteric reflux (VUR) in order to optimize empirical antibiotic therapy and prophylaxis. In patients aged between
1 month and 24 months with a first febrile UTI (FUTI; n = 205) the leading pathogen was Escherichia coli (E. coli) (83.4%). In comparison with patients with FUTI, those with RUTI (n = 24) had more Enterococcus and Enterobacter infections and higher resistance rates of E. coli against trimethoprim (TMP), trimethoprim/sulfamethoxazole (SXT) or ampicillin (AMP). Boys with ultrasound-detected renal
abnormalities (n = 71) showed 14.2% Pseudomonas and 59.1% E. coli infections versus girls (n = 48) (2.1% Pseudomonas and 93.7% E. coli). Of 390 patients who underwent voiding cysto-urethrography, 31.5% had VUR. Of them, 45.5% received antimicrobial prophylaxis
with SXT (n = 30) or cefazolin (n = 26). There was no difference between girls (n = 242) and boys (n = 148) regarding the frequency of VUR and pathogens. There were more TMP- and SXT-resistant E. coli cultures from patients with VUR (37.8%) than from those without VUR (25.8%). Treatment with TMP, SXT and AMP alone appeared
to be insufficient in many cases because of high resistance rates of E. coli and other uropathogens. 相似文献
993.
Gräsner JT Messelken M Fischer M Jantzen T Bahr J Böttiger BW Dörges V Franz R Gries A Krieter H Schüttler J Wnent J Zander JF Scholz J 《麻醉学,监护医学,急救医学,疼痛治疗》2008,43(10):706-709
After several years of preparation the German Society of Anaesthesiology and Intensive Care Medicine (Deutsche Gesellschaft für An?sthesiologie und Intensivmedizin--DGAI) has, during its annual conference 2007, officially launched the DGAI CPR registry. After implementation of the dataset "primary care" in 2004, the datasets "definite care" and "long-term process" have now been released. The completed, internet based database is open for any interested person or institution as a tool for quality management. Data may be recorded online, and basic analyses be performed immediately. Beyond that benchmarks with other institutions are possible, by including the well accepted Utstein style on international level too. 相似文献
994.
There has been an abundance of publications describing genetic variability in molecules affecting innate and adaptive immunity, pharmacogenetics, and other nonimmunological factors like the renin-angiotensin aldosterone system, coagulation, and fibrosis markers. Studies indicated some associations between polymorphisms in these candidate genes with outcomes in organ transplantation and underlined a potential role of genetic variability in transplantation. To be clinically applicable, large prospective studies must be performed to better define the potential benefits of genotyping on these genetic markers and clinical outcomes. The purposes of this review are to summarize recent data describing associations of polymorphisms in both immunological and nonimmunological molecules with transplant outcomes, with a particular emphasis on renal transplantation, and discuss limitations and clinical implications. 相似文献
995.
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998.
Strach K Sommer T Grohé C Meyer C Fischer D Walter MC Vorgerd M Reilich P Bär H Reimann J Reuner U Germing A Goebel HH Lochmüller H Wintersperger B Schröder R 《Neuromuscular disorders : NMD》2008,18(6):475-482
We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy. 相似文献
999.
Moonen AF Pilot P Meijers WG Waelen RA Leers MP Grimm B Heyligers IC 《Acta orthopaedica Belgica》2008,74(2):210-215
A pilot study was undertaken to evaluate whether filters integrated in postoperative retransfusion systems affect the amount of blood cells retransfused after total knee arthroplasty. Twenty-two consecutive patients received either the Donor retransfusion system (n=12 patients) or the Bellovac ABT retransfusion system (n=10). Both systems differ with respect to the type of filter, a Pall Lipiguard filter and a Sangopur filter, respectively. At the beginning of the retransfusion, blood samples were taken before and after the filter. The filter of the Donor system significantly decreased the amount of leukocytes and erythrocytes, whereas the filter of the Bellovac system did not. As a result the haemoglobin level of retransfused blood with the Donor system was significantly lower than with the Bellovac system. It can be concluded that the type of filter integrated in two postoperative autologous blood retransfusion systems significantly affected the amount of blood cells retransfused in patients undergoing total knee arthroplasty. 相似文献
1000.
Fink B Egl M Singer J Fuerst M Bubenheim M Neuen-Jacob E 《Arthritis and rheumatism》2007,56(11):3626-3633
OBJECTIVE: To investigate the frequency of structural changes in the vastus medialis muscle in patients with osteoarthritis (OA) of the knee. METHODS: Specimens of vastus medialis muscle from 78 patients with end-stage OA of the knee undergoing total joint arthroplasty were examined histopathologically. Morphologic changes were assessed in relation to clinical features that might have contributed to muscle injury. RESULTS: All muscle specimens exhibited atrophy of type 2 fibers. In 32% of the patients, atrophy of type 1 fibers was also noted. Fiber type grouping of type 1 fiber in 15% of the patients and type 2 fiber in 37%, indicating reinnervation, led to the diagnosis of neurogenic muscular atrophy in 32% of the patients; selective atrophy of type 2 fiber in 68% of the specimens was interpreted as possibly resulting from pain-associated disuse. Signs of muscle degeneration and regeneration were found in 65% and 96% of the samples, respectively. Soft tissue changes indicating long-term disease, such as calcification, fibrosis, and lipomatosis, were frequently observed (in 69%, 71%, and 94% of the patients, respectively). Statistical analysis of clinical and morphologic parameters revealed a significant association between degenerative muscle changes and the presence of a varus deviation of the leg axis. CONCLUSION: Patients with OA of the knee frequently exhibit muscle changes, with probable multifactorial etiology. Selective atrophy of type 2 fibers might reflect pain-related immobilization of a limb. Changes such as neurogenic muscular atrophy, muscle fiber degeneration, and regeneration might contribute as cofactors in the development or progression of OA. 相似文献