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61.
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A survey of newborn screening for cystic fibrosis in Europe. 总被引:2,自引:0,他引:2
Kevin W Southern Anne Munck Rodney Pollitt Georges Travert Luisa Zanolla Jeannette Dankert-Roelse Carlo Castellani 《Journal of cystic fibrosis》2007,6(1):57-65
BACKGROUND: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive trypsinogen (IRT) in their serum. Measurement of IRT in the first week of life has enabled CF to be incorporated into existing newborn screening (NBS) blood spot protocols. However, IRT is not a specific test for CF and NBS therefore requires a further tier of tests to avoid unnecessary referral for diagnostic testing. Following identification of the CFTR gene, DNA analysis for common CF-associated mutations has been increasingly used as a second tier test. The aim of this study was to survey the current practice of CF NBS programmes in Europe. METHOD: A questionnaire was sent to 26 regional and national CF NBS programmes in Europe. RESULTS: All programmes responded. The programmes varied in number of infants screened and in the protocols employed, ranging from sweat testing all infants with a raised first IRT to protocols with up to four tiers of testing. Three different assays for IRT were used; in the majority (24) this was a commercially available kit (Delfia). A number of programmes employed a second IRT measurement in the 4th week of life (as the IRT is more specific at this point). Nineteen programmes used DNA analysis for common CFTR mutations on samples with a raised first IRT. Three programmes used a second IRT measurement on infants with just one recognised mutation to reduce the number of infants referred for sweat testing. Referral to clinical services was prompt and diagnosis was confirmed by sweat testing, even in infants with two recognised mutations in most programmes. Subsequent clinical pathways were less uniform. Multivariate analysis demonstrated a relationship between the age of diagnosis and the timing of the first IRT. More sweat tests were undertaken if the first IRT was earlier and the diagnosis was later. CONCLUSIONS: Annually these programmes screen approximately 1,600,000 newborns for CF and over 400 affected infants are recognised. The findings of this survey will guide the development of European evidence based guidelines and may help new regions or nations in the development and implementation of NBS for cystic fibrosis. 相似文献
63.
Pierpaolo Sileri Vito Maria Stolfi Giampiero Palmieri Alessandra Mele Alessandro Falchetti Sara Di Carlo Achille Lucio Gaspari 《Journal of gastrointestinal surgery》2007,11(12):1662-1668
Stapled hemorrhoidopexy is widely accepted to treat hemorrhoids, but serious complications have been reported. In this prospective
audit, we correlated clinical outcome with pathological findings. From January 2003 to April 2007, 94 patients underwent hemorrhoidopexy.
Macroscopic appearance of the specimen (shape, size, and depth) was recorded. Microscopically, the presence of columnar, transitional,
and squamous epithelium, the involvement of circular/longitudinal smooth muscle, and features of mucosal prolapse were assessed.
Clinical outcome was evaluated by a validated questionnaire. Postoperative pain, secretion, and bleeding durations were 12.7 +/− 10.6,
5.6 +/− 9.6, and 6.3 +/− 8.4 days. Patient’s return to work averaged 16.7 +/− 10.7 days. Fissure, skin tags, and anal strictures
were observed in 23.4%. Seven patients experienced pain for a significantly longer period of time. All specimens contained
columnar mucosa, but 29.8% contained columnar and transitional epithelium and 12.8% contained columnar, anal transitional,
and stratified squamous epithelium. Smooth muscle was observed in 62.7%. Pain was significantly increased if transitional
epithelium was present in the specimen. No correlation or differences were observed if smooth muscle was present, although
postoperative bleeding was more frequent. Hemorrhoidopexy is safe and effective. The specimen should always be sent for pathology
examination. Only columnar epithelium should be present and, although the presence of smooth muscle does not influence the
outcome in terms of functional results, its presence may play a role in postoperative bleeding.
Presented as poster at the Digestive Disease Week, May 2007, Washington, USA 相似文献
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Isidoro Di Carlo Elia Pulvirenti Adriana Toro Giuseppe Corsale 《World journal of surgery》2009,33(3):520-525
Background Laparoscopic cholecystectomy is now indisputably the gold standard for managing most gallbladder diseases. However, subversion
of the Calot triangle anatomy cannot always be managed by laparoscopy and often requires a laparotomy conversion. This report
discusses our patients treated with our personal technique.
Methods Patients undergoing subtotal cholecystectomy performed by the same surgeon with a personal technique from January 1999 to
December 2007 were considered for the present study. Sex, age, symptoms, co-morbidities, diagnostic modality, time between
hospitalization and surgery, length of postsurgical hospitalization, morbidity and mortality, and follow-up were assessed.
Results Four men and six women, aged 23 to 88 years, were included. Every patient had symptoms of acute cholecystitis. Four patients
had had symptoms for an average of 2.5 days and six for an average of 5.1 h. All patients were studied by ultrasonography,
and seven underwent computed tomography. The operation was performed within 48 h in all patients. The average hospital stay
from surgery to discharge was different for patients who underwent primary open cholecystectomy (10 days, range 5–16 days)
and those having a conversion after a laparoscopic attempt (7.8 days, range 4–16 days). During the postoperative period only
one patient presented a self-limiting biliary leak. No postoperative mortality occurred. At follow-up, any recurrences of
stone in the biliary tract or newly formed pouch were recorded.
Conclusions The results suggest that this new approach can be considered effective in every instance of subversion of the normal anatomy
of Calot’s triangle. 相似文献
66.
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Carlo Piccinni Chiara Sacripanti Elisabetta Poluzzi Domenico Motola Lara Magro Ugo Moretti Anita Conforti Nicola Montanaro 《European journal of clinical pharmacology》2010,66(2):199-206
Aim
The aim of the present study was to collect and compare cases of drug-induced PML in order to contribute to the debate about the role of the underlying diseases and/or drug immunosuppression in PML occurrence. 相似文献69.
70.