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81.
Omer Salih Akar Sezgin Gunes Ummet Abur Engin Altundag Ramazan Asci Onur Emre Onat Tayfun Ozcelik Gonul Ogur 《Andrologia》2020,52(11):e13739
46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations. 相似文献
82.
Tarik S. Onur Ruobin Wu Stacey Chu Wenhan Chang Hubert T. Kim Alexis B.C. Dang 《Journal of orthopaedic research》2014,32(2):318-323
Joint instability and cartilage trauma have been previously studied and identified as key mediators in the development of posttraumatic osteoarthritis (PTOA). The purpose of this study was to use an in vivo model to compare the effect of joint instability, caused by the rupture of the anterior cruciate ligament (ACL), versus cartilage compression. In this study, mice were subjected to cyclical axial loads of twelve Newtons (N) for 240 cycles or until the ACL ruptured. One and eight weeks after this procedure, knees were sectioned coronally and evaluated for osteoarthritis by histology. Using a scoring scale established by [Pritzker K, Gay S, Jimenez S, et al. (2006): Osteoarthritis Cartilage 14:13–29], the articular cartilage across each surface was scored and combined to produce a total degeneration score. The ACL‐ruptured group had a significantly greater total degeneration score than either control or compression treated joints at 1 and 8 weeks. Additionally, only sections from ACL‐ruptured knees consistently showed synovitis after 1 week and osteophyte formation after 8 weeks. Thus, it appears using that ACL rupture consistently creates a severe osteoarthritis phenotype, while axial cartilage compression alone does not appear to be an appropriate method of inducing PTOA in vivo. © 2013 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 32:318–323, 2014. 相似文献
83.
S Dixon AW Blom MR Whitehouse V Wylde 《Annals of the Royal College of Surgeons of England》2014,96(1):61-66
INTRODUCTION
The Triathlon® (Stryker, Kalamazoo, MI, US) total knee replacement was designed to improve patient function and survivorship. The aim of this study was to determine whether the Triathlon® prosthesis produces better patient reported outcomes than a previous design by the same manufacturer, the Kinemax Plus.METHODS
The outcome of 233 knees of patients with a mean age of 68 years (range: 40–80 years) who received the Kinemax Plus prosthesis were compared with the outcomes of 220 knees of patients with a mean age of 70 years (range: 42–90 years) who received the Triathlon® prosthesis. Data were collected via postal questionnaire prior to surgery as well as at 8–12 weeks and at 1 year following surgery. Validated questionnaires were used including the WOMAC® (Western Ontario and McMaster Universities) pain and function scales, the Knee injury and Osteoarthritis Outcome Score quality of life scale and the self-administered patient satisfaction scale.RESULTS
This study found that patients who had the Triathlon® prosthesis had significantly better pain relief (p<0.0001), function (p=0.028), knee related quality of life (p<0.0001) and satisfaction (p=0.0003) at three months after surgery than those who received the Kinemax Plus prosthesis. In addition, knee related quality of life (p=0.002) and satisfaction (p=0.021) were significantly higher at one year after surgery in Triathlon® patients.CONCLUSIONS
The findings suggest that return to function and reduction in pain may occur more quickly in patients with a Triathlon® prosthesis than in those with the Kinemax Plus. 相似文献84.
85.
86.
Sokullu O Sanioglu S Orhan G Kut MS Hastaoglu O Karaca P Ozay B Ayoglu U Bilgen F 《Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital》2008,35(2):147-151
We analyzed the postoperative short- and mid-term outcomes of a series of patients with annuloaortic ectasia who underwent a modified Bentall operation in our clinic from September 2000 through March 2006. The study included 44 patients. Their average age was 53.4 +/- 14.1 years. The underlying disease was degenerative aortic aneurysm in 42 patients (95.5%) and acute aortic dissection in 2 patients (4.5%). Six patients (13.6%) had Marfan phenotype. Aortic insufficiency was moderate in 30 patients (68.2%) and severe in 14 patients (31.8%). In our modification of the Bentall technique, we completed the resection of the aortic root while leaving 5 to 10 mm of native aortic wall tissue to support the anastomosis. A long piece of Teflon felt (width, 0.5-1 cm) was laid on the annulus, and nonpledgeted 2-0 polyester sutures were passed in turn through the Teflon felt, the preserved aortic tissue, and the aortic annulus. A thin piece of Teflon felt was also used in the coronary artery reimplantation sites. Fibrin glue was routinely applied to all anastomoses. There were no intraoperative deaths. One patient died in the hospital after surgery for acute type I aortic dissection. Another patient died 1 year after the operation from prosthetic-valve endocarditis. No patient required surgical correction of excessive postoperative bleeding. Kaplan-Meier curves showed overall survival of 0.94 (95% confidence intervals, 0.9-0.99). We consider our approach an easy, effective way to minimize bleeding from the anastomoses and at the aortic root--a common challenge in aortic surgery. 相似文献
87.
Çizmecioğlu FM Etiler N Görmüş U Hamzaoğlu O Hatun Ş 《Journal of clinical research in pediatric endocrinology》2008,1(2):89-96
Aim: To determine the prevalence of vitamin D hypovitaminosis among obese and overweight schoolchildren.Design: A cross−sectional population based sample.Methods: In a cross−sectional study, 301 students (177 girls and 124 boys) aged 11−19 years were selected by multistage stratified sampling design. Subjects were classified according to their body mass index as obese, overweight and normal. Serum 25−hydroxyvitamin D (25−OHD), intact parathyroid hormone (iPTH) and alkaline phosphatase (ALP) were measured in late winter months. Vitamin D deficiency was defined as a 25−OHD 20 ng/ml.Results: The prevalence of hypovitaminosis D was found as 65% in all students. Vitamin D deficiency was found in 12% and insufficiency in 53% of all students. Vitamin D deficiency in female students was about two times more common than in males. In obese and overweight schoolchildren with hypovitaminosis D, serum 25−OHD levels decreased as BMI increased. There were no correlations between serum 25−OHD and ALP and iPTH levels.Conclusion: Vitamin D deficiency and insufficiency are common in obese and overweight schoolchildren, especially in girls. Obesity could be a risk factor in terms of hypovitaminosis D in adolescents. Vitamin D supplementation should be administered particularly to adolescent girls.Conflict of interest:None declared. 相似文献
88.
89.
Janine Diehl-Schmid Oezguer A. Onur Jens Kuhn Traugott Gruppe Alexander Drzezga 《Current neurology and neuroscience reports》2014,14(10):1-11
The term frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative disorders that target the frontal and temporal lobes. It accounts for approximately 10 % of pathologically confirmed dementias but has been demonstrated to be as prevalent as Alzheimer’s disease in patients below the age of 65. The 3 major clinical syndromes associated with FTLD include behavioral variant frontotemporal dementia, semantic and nonfluent variants of primary progressive aphasia. The more recently introduced term logopenic variant appears to represent an atypical form of Alzheimer’s disease in the majority of cases. The neuropathology underlying these clinical syndromes is very heterogeneous and does not correlate well with the clinical phenotype. This causes great difficulties in early and reliable diagnosis and treatment of FTLD. However, significant advances have been made in recent years via the application of magnetic resonance imaging and positron emission tomography imaging methods as biomarkers. The current review aims to provide a synopsis on the value of magnetic resonance imaging-based and molecular imaging procedures in FTLD. 相似文献