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ALPM Catelani ACV Krepischi CA Kim F Kok PA Otto MTBM Auricchio JF Mazzeu DT Uehara SS Costa J Knijnenburg A Tabith Jr AM Vianna-Morgante RC Mingroni-Netto C Rosenberg 《Clinical genetics》2009,76(5):458-464
The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage-sensitive genes related to hearing impairment, namely 1q23.3–q25.2, 2q22q23, 6p25.3 and 11q13.2–q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but its role as a predisposition gene remains a possibility. Our results show that syndromic deafness is frequently associated with chromosome microimbalances (14–27%), and the use of aCGH for defining disease etiology is recommended. 相似文献
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Anna DT Muntingh M Christina van der Feltz-Cornelis Harm WJ van Marwijk Philip Spinhoven Willem JJ Assendelft Margot WM de Waal Leona Hakkaart-van Roijen Herman J Adèr Anton JLM van Balkom 《BMC health services research》2009,9(1):159
Background
Panic disorder (PD) and generalized anxiety disorder (GAD) are two of the most disabling and costly anxiety disorders seen in primary care. However, treatment quality of these disorders in primary care generally falls beneath the standard of international guidelines. Collaborative stepped care is recommended for improving treatment of anxiety disorders, but cost-effectiveness of such an intervention has not yet been assessed in primary care. This article describes the aims and design of a study that is currently underway. The aim of this study is to evaluate effects and costs of a collaborative stepped care approach in the primary care setting for patients with PD and GAD compared with care as usual. 相似文献88.
LINDA KAJISA AKRAPORN PRAKOBPHOL MORTEN SCHIÖDT SUSAN J. FISHER 《European journal of oral sciences》1990,98(6):461-471
Abstract – Slabs of human enamel and cementum were incubated with plasma alone or with various mixtures of plasma and saliva. Proteins and glycoproteins that adsorbed to the surface of the slabs in 0 to 60 min were labeled by lactoperoxidase-catalyzed 125 I-iodination and by mild periodate oxidation followed by NaB3 H4 reduction. The labeled components were separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and visualized by autoradiography or fluorography. From plasma alone, a 58 and a 66 kDa protein (probably albumin) were adsorbed to the enamel surface in relatively equal amounts, but no 125 I-labeled components were detected on the cementum surface in the absence of saliva. Adding 10% saliva to the incubation mixture promoted the adsorption of the 58 and 66 kDa components to cementum. In addition, another set of proteins, including components of 44, 47, 29, and 25 kDa, was adsorbed to both cementum and enamel in the presence of saliva. These six proteins were the major 125 I-labeled species in all of the pellicles formed from mixtures of plasma and saliva. The electrophoretic mobility of the major 120 and 140 kDa 3 H-labeled sialoglycoproteins adsorbed to both cementum and enamel was similar to that of the low-molecular-weight mucin of submandibular/sublingual saliva. 相似文献
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Various methods to reinforce acrylic denture base material have been used to repair fractures in complete dentures. Metal wires and plates have been tested as reinforcement of polymethyl methacrylate (PMMA) resin. The contributions of the studies conducted on this biphase composite system are discussed in this review article. The literature has reported that even thin metal wires incorporated into the PMMA matrix increased the transverse strength of the PMMA construction. Metal mesh inserted into PMMA resin had negligible effects on the transverse strength of the restoration. Macroscopic retention of the metal strengtheners to the PMMA had only a minor effect on the strength in contrast to microscopic retention, which showed a more marked effect. Chemical bonding between the PMMA and metal reinforcer enhanced the strength of the prosthesis with some exceptions. 相似文献
90.
Dacryocystography has been widely used in the assessment of the nasolacrimal duct system, particularly in patients with epiphora. Our study was undertaken to evaluate image quality and level of patient discomfort during examinations with water-soluble contrast agents (iohexol [Omnipaque 240], iopamidol [Isovue 200 and 300], and 52.7% diatrizoate meglumine and 26.9% iodipamide meglumine [Sinografin]) compared with the iodized oil-based contrast agent Lipiodol. Fifty-five dacryocystograms were obtained from 41 consecutive patients. The procedure was performed first with a water-soluble contrast agent, then repeated with Lipiodol. A distention technique was used with conventional radiography. Patients were asked to evaluate their level of discomfort (none, mild, moderate, severe). The images were evaluated separately by two radiologists, blinded to which water-soluble agent was employed, and the images were graded on a five-point scale. Images obtained with Lipiodol were significantly better than those with other agents (P less than .02), and image quality deteriorated as iodine concentration decreased. Use of Isovue 300 and Sinografin produced significantly more patient discomfort (P less than .03) than the use of other agents. The authors conclude that, in most instances, Lipiodol is the contrast agent of choice with regard to both highest level of patient comfort and greatest conventional radiographic image quality among the agents compared. 相似文献