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991.
Xq28 duplication overlapping the int22h‐1/int22h‐2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability
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992.
993.
Ram N. Bishnoi Allen D. Everett Richard E. Ringel Carl Y. Owada Ralf J. Holzer Joanne L. Chisolm Wolfgang A. Radtke D. Scott Lim John F. Rhodes Jr John D. Coulson 《Pediatric cardiology》2014,35(7):1124-1131
This study aimed to assess the technical aspects of atrial septal defect (ASD) closure using the Amplatzer septal occluder (ASO) and the Gore Helex septal occluder (GHSO) for infants weighing less than 8 kg and to determine the safety, effectiveness, and near-to-intermediate-term outcome of the closure. The Mid-Atlantic Group of Interventional Cardiology Registry of percutaneous, transcatheter ASD closure procedures was reviewed for this analysis. Patients from 10 hospitals in the United States were included. The cohort for this report consisted of 68 patients weighing less than 8 kg (range, 2.3–7.8 kg; mean, 5.5 ± 1.6 kg) and ranging in age from 1 to 24 months (mean, 8.6 ± 4.7 months). The indications for ASD closure were failure to thrive, significant right heart enlargement, shunts otherwise thought to be hemodynamically significant, and poor overall clinical status. Devices were successfully implanted in 66 of the 68 infants (97.1 % procedural success rate). Five minor procedure-related complications occurred. At follow-up assessment, clinical status had improved significantly as measured by improved weight gain and decreased ventilator or oxygen dependence. All residual shunts spontaneously closed during the follow-up period. Six late deaths occurred, none of which were clearly device related. The ASO and GHSO can be safely and effectively implanted for ASD closure in infants weighing less than 8 kg. These procedures usually are successful and seldom complicated, resulting in significant clinical improvement. 相似文献
994.
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997.
Hiroyasu Endo Terry D. Rees Edward P. Allen Kayo Kuyama Shinichiro Aoki Hirotsugu Yamamoto Takanori Ito 《Journal of periodontology》2014,85(6):802-809
Background: Desquamative gingivitis (DG) is a clinical manifestation common to several diseases. It is known that most cases of DG are caused by mucous membrane pemphigoid (MMP), oral lichen planus (OLP), or pemphigus vulgaris (PV). Early recognition and treatment of these diseases can improve the prognosis, but diagnostic delays are common in patients with DG because obtaining a diagnostic biopsy is technically challenging. A biopsy technique designed to maintain the gingival epithelium for patients with DG was developed. The usefulness of this technique is discussed. Methods: This study is based on a retrospective review of 27 DG cases. A stab‐and‐roll technique was used to obtain gingival tissue. This technique is designed to reduce lateral forces on the epithelium during the procedure and to thereby prevent the inadvertent removal of the epithelium from the biopsy specimen. A total of 52 biopsies comprising 27 for hematoxylin and eosin (H&E)–stained samples and 25 for direct immunofluorescence (DIF) testing were reviewed. Results: Fifty‐one of the 52 biopsies (98.1%) maintained the epithelium. Only one biopsy (1.9%) showed that the epithelium was totally absent. Therefore, H&E and DIF features of 51 biopsies were analyzed. Definitive diagnoses of the diseases causing DG included MMP (13 cases), PV (eight cases), and OLP (six cases). Conclusions: A diagnostic biopsy was obtained from the gingiva of patients with DG using the stab‐and‐roll technique. The gingival epithelium was well maintained, and the relationship with the underlying connective tissue was diagnostic. In the future, this stab‐and‐roll biopsy technique may facilitate early diagnosis and treatment of diseases causing DG. 相似文献
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999.
Ariunzaya Amgalan Terrence Allen Maha Othman Homa K. Ahmadzia 《Journal of thrombosis and haemostasis》2020,18(8):1813-1838
Thromboelastography (TEG) and rotational thromboelastometry (ROTEM) are point‐of‐care viscoelastic devices that use whole blood samples to assess coagulation and fibrinolysis. These devices have been studied extensively in cardiac surgery, but there is limited robust evidence supporting its use in obstetrics. The hesitancy toward its routine use in obstetrics may be due to the current lack of randomized controlled trials and large observational studies. The study aims to systematically review studies that investigated TEG/ROTEM use in pregnancy or peripartum, and to provide recommendations for future studies to fill current research gaps. We performed a systematic review of studies on viscoelastic testing in obstetrics. Included studies were original research, used TEG or ROTEM during pregnancy or peripartum, and published in English. Ninety‐three studies, spanning 31 years from 1989 to 2020 and with a total of 32,817 participants, were included. Sixty‐two (66.7%) of the studies used TEG and 31 (33.3%) used ROTEM. To date, there are a total of two randomized controlled trials on TEG/ROTEM use in obstetrics. ROTEM may be used to guide transfusion therapy for postpartum hemorrhage. TEG and ROTEM can detect the hypercoagulable changes associated with pregnancy. Variability between study protocols and results suggests the need for future large prospective high‐quality studies with standardized protocols to investigate the utility of TEG/ROTEM in assessing risk for thrombosis and hemorrhage as well as in guiding prophylaxis and treatment in obstetric patients. This review identifies the gaps and provides concrete recommendations for future studies to fill those gaps. 相似文献
1000.
Kavita Radhakrishnan Christine Julien Matthew O'Hair Thomas Baranowski Grace Lee Catherine Allen Atami Sagna Edison Thomaz Miyong Kim 《Applied clinical informatics》2020,11(5):873
Background Poor self-management of heart failure (HF) has contributed to poor health outcomes. Sensor-controlled digital games (SCDGs) integrates data from behavior-tracking sensors to trigger progress, rewards, content, and positive feedback in a digital game to motivate real-time behaviors. Objectives To assess the usability of an SCDG prototype over a week of game-playing among 10 older adults with HF in their homes. Methods During initial play, participants'' SCDG experiences were observed in their homes using a checklist based on the seven-item Serious Game User Evaluator (SeGUE) instrument. After a week of game-playing, participants completed a survey guided by the Intrinsic Motivation Inventory, to provide their perceptions of the SCDG''s usability. Qualitative analysis via semistructured interview-derived themes on experiences playing the SCDG, perceptions regarding engaging with the SCDG, and any usability issues encountered. Results Ten HF participants (50% women and 50% White) played the SCDG for an average of 6 out of 7 days. Nine found the SCDG to be interesting, satisfying, and easy to play. The average step count over a week was 4,117 steps (range: 967–9,892). Average adherence with weight monitoring was 5.9 days in a week. Qualitative analysis yielded outcomes regarding attitudes toward SCDG, and barriers and facilitators that influenced participants'' engagement with the SCDG. Conclusion To the best of the authors'' knowledge, this usability and feasibility study is the first to report an SCDG designed to improve HF self-management behaviors of older adults in their homes. Future research should consider several issues, such as user profiles, prior game-playing experiences, and network conditions most suitable for connected health interventions for older adults living in the community. 相似文献