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961.
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963.
Albert Y. Lin Thomas B. Nutman David Kaslow John J. Mulvihill Laura Fontaine Beverly J. White Turid Knutsen Karl S. Theil P.K. Raghuprasad Alisa M. Goldstein Margaret A. Tucker 《American journal of medical genetics. Part A》1998,76(3):229-237
We describe a five-generation kindred with familial eosinophilia (FE; MIM131400), characterized by the occurrence of sustained eosinophilia of unidentifiable cause in multiple relatives. The inheritance pattern is consistent with an autosomal dominant pattern. Among 52 related subjects studied, 19 were affected and 33 were unaffected. Ten unaffected spouses were also evaluated. Four subjects with sustained eosinophilia were diagnosed with cardiac abnormalities and two of them also had neurologic symptoms. In comparison with the unaffected or spouses, evaluation of complete blood counts showed that the affected relatives had, as expected, significantly higher white cell (P < 0.005) and absolute eosinophil counts (P < 0.001) and lower red cell counts (P < 0.05). Evaluation of serum cytokine levels (IL-5, IL-3, and granulocyte-macrophage colony-stimulating factor (GMCSF) and serology for parasitic helminth infection demonstrated no differences between the affected and unaffected individuals; no individuals studied had serologic evidence for parasitic infection. There were also no differences in anti-nuclear antibody, serum cobalamin (vitamin B12) level, immunoglobulin level, leukocyte alkaline phosphatase, rheumatoid factor, HLA analysis, and stool findings for ova and parasites. Among eight affected persons who had peripheral blood or bone marrow karyotype analysis, two carried the same chromosome abnormality, a pericentric inversion of chromosome 10, inv (10) (p11.2q21.2). A gene mapping study is currently underway to study the underlying genetic mechanism(s) of this syndrome. Am. J. Med. Genet. 76:229–237, 1998. © 1998 Wiley-Liss, Inc. 相似文献
964.
Marylou Guihan Kayla Roddick Tomas Cervinka Cara Ray Christopher Sutton Laura Carbone Frances M. Weaver 《The journal of spinal cord medicine》2022,45(1):33
Context/ObjectiveThe risk of lower extremity (LE) fractures in persons with spinal cord injury or disorders (SCI/D) is double that of the able-bodied population. LE fractures are the most common fracture location in SCI/D. Physical therapists (PTs) and occupational therapists (OTs) play an important role in rehabilitating LE fractures in Veterans with SCI/D. This paper describes their role in assisting persons with SCI/D and LE fractures to return to previous function and levels of participation.DesignCross-sectional semi-structured interviews were conducted by telephone. Setting: VA SCI centersParticipantsPurposive sample of therapists (PTs and OTs) experienced in LE fracture rehabilitation in SCI/D Interventions: NA.Outcome MeasuresCoding of responses used a data-driven thematic and deductive approach, dictated by a semi-structured interview guide addressing the entire treatment process.ResultsParticipants strongly advocated for early PT/OT involvement in post-fracture rehabilitation in order to recommend braces and devices to minimize skin breakdown, and needs for patient equipment, skills training and/or caregiver assistance resulting from post-fracture mobility changes. Seating specialists should be involved in post-fracture seating assessments in wheelchair users to address changes in alignment, deformities, limb length discrepancies and/or seating posture during and following fracture management.ConclusionPTs and OTs are critical in rehabilitating LE fractures in persons with SCI/D and LE fractures, bringing expertise in patient function, ambulatory status, transfer strategies, mobility equipment, spasticity, lifestyle, and home and caregiver support. Involving them early in the rehabilitation process, along with orthopedic surgeons, physiatrists and other SCI clinicians can address the multiple and often unique issues that occur in managing fractures in this population. 相似文献
965.
Alisa E. Koch Margaret M. Halloran Shigeru Hosaka Manisha R. Shah Catherine J. Haskell Steven K. Baker Ralph J. Panos G. Kenneth Haines Gregory L. Bennett Richard M. Pope Napoleone Ferrara 《Arthritis \u0026amp; Rheumatology》1996,39(9):1566-1575
Objective. Angiogenesis is an integral component of the vasculoproliferative phase of rheumatoid arthritis (RA). Recently, a heparin-binding cytokine termed hepatocyte growth factor (HGF), or scatter factor (due to its ability to disperse cohesive epithelial colonies), was described. We conducted this study to investigate the hypothesis that this cytokine was present in the milieu of the inflamed joint, and that it contributed to the chemotaxis of endothelial cells in the synovial tissue. Methods. We examined synovial fluid, synovial tissue, and peripheral blood from 91 patients with RA and other arthritides. We used 83 total samples in an enzyme-linked immunosorbent assay to quantitate the HGF in synovial fluids and peripheral blood. To determine whether the HGF was biologically active, an epithelial scatter factor assay was performed. Immunohistochemical analysis was used to determine localization in synovial tissues. To define a function for synovial HGF, we preincubated rheumatoid synovial fluids with neutralizing anti-HGF and measured the ability of these synovial fluids to induce endothelial chemotaxis. Results. Synovial fluid from patients with RA contained a mean ± SEM HGF concentration of 2.0 ± 0.3 ng/ml, while synovial fluid from patients with other arthritides (including inflammatory arthritis) contained 2.4 ± 0.7 ng/ml HGF. Osteoarthritis (OA) patient samples contained the smallest quantities of synovial fluid HGF at 0.9 ± 0.1 ng/ml. RA synovial fluid contained significantly more HGF than did RA peripheral blood (1.1 ± 0.2 ng/ml) (P < 0.05). Rheumatoid synovial fluids induced more scattering of cells than did OA synovial fluids, suggesting a role for this cytokine in rheumatoid joint destruction. Interleukin-1β induced expression of rheumatoid synovial tissue fibroblast antigenic HGF and scatter factor activity. Immunohistochemically, HGF, as well as the HGF receptor (the met gene product), localized to significantly more rheumatoid synovial tissue lining cells than normal lining cells (P < 0.05). Both HGF and its receptor immunolocalized to subsynovial macrophages as well. Levels of synovial tissue immunoreactive HGF correlated positively with the number of synovial tissue blood vessels. Anti-HGF neutralized a mean of 24% of the chemotactic activity for endothelial cells found in 10 rheumatoid synovial fluid samples. Conclusion. These results indicate that synovial HGF may contribute to the vasculoproliferative phase of inflammatory arthritides such as RA, by inducing HGF-mediated synovial neovascularization. These findings point to a newly described role for HGF in the fibroproliferative phase of RA-associated synovitis. 相似文献
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968.
Shylaja Srinivasan Ling Chen Jennifer Todd Jasmin Divers Samuel Gidding Steven Chernausek Rose A. Gubitosi-Klug Megan M. Kelsey Rachana Shah Mary Helen Black Lynne E. Wagenknecht Alisa Manning Jason Flannick Giuseppina Imperatore Josep M. Mercader Dana Dabelea Jose C. Florez 《Diabetes》2022,71(1):170
969.
Experience in the Cromwell Hospital London, Adult-to-Adult Living Donor Liver Transplantation programme is described with particular reference to the results obtained in the first five recipients. The first two of these received a left lobe graft and the remaining three a right lobe graft. Three sons/daughters, and two siblings were the donors. Four of the five recipients survived and did well. The one recipient who died was a complicated retransplant procedure. The donors showed rapid recovery of liver function with normal tests by the 10th day and with evidence of regeneration on follow-up CT volume evaluation. The value of the procedure for patients who have little chance of obtaining a cadaver organ is undoubted, but critical assessment of the recipient's clinical state is essential if success is to be obtained with a small graft and at all times the safety of the donor must remain of paramount concern, as reports to date indicate instances of donor death in adult programme. 相似文献
970.
4月份,赛诺菲安万特宣称将会以5亿美元收购加利福尼亚的一家生物技术公司BiPar Sciences,通过此次收购,赛诺菲安万特将会获得BiPar公司的抗癌新药--聚腺苷二磷酸核糖聚合酶(PARP)抑制剂BSI-201,该药目前处于Ⅱ期临床研究阶段. 相似文献