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排序方式: 共有577条查询结果,搜索用时 15 毫秒
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Thy Thy Vanem Tordis Böker Gunhild F. Sandvik Eva Kirkhus Hans‐Jørgen Smith Kai Andersen Liv Drolsum Rigmor Lundby Cecilie Røe Kirsten Krohg‐Sørensen Odd R. Geiran Benedicte Paus Svend Rand‐Hendriksen 《American journal of medical genetics. Part A》2020,182(2):397-408
The age‐dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow‐up study were to explore how clinical features change over a 10‐year period in the same Norwegian MFS cohort. In 2003–2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology. Ten years later, we performed follow‐up investigations of the survivors (n = 48) who consented. Forty‐six fulfilled the revised Ghent criteria. Median age: females 51 years, range 32–80 years; males 45 years, range 30–67 years. New aortic root dilatation was detected in patients up to 70 years. Ascending aortic pathology was diagnosed in 93 versus 72% at baseline. Sixty‐five percent had undergone aortic surgery compared to 39% at baseline. Pulmonary trunk mean diameter had increased significantly compared to baseline. From inclusion to follow‐up, two patients (three eyes) developed ectopia lentis, four developed dural ectasia, four developed scoliosis, three developed incisional or recurrent herniae, and 14 developed hindfoot deformity. No changes were found regarding protrusio acetabuli, spontaneous pneumothorax, or striae atrophicae. The study confirms that knowledge of incidence and progression of organ manifestations throughout life is important for diagnosis, treatment, and follow‐up of patients with verified or suspected MFS. 相似文献
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Madsen Christina Merete Tvede Bisgaard Sara Kjær Primdahl Jette Christensen Jeanette Reffstrup von Bülow Cecilie 《Journal of occupational rehabilitation》2021,31(4):866-885
Journal of Occupational Rehabilitation - Purpose To present an overview of the evidence of the effect of job loss prevention interventions, aiming to improve work ability and decrease absenteeism... 相似文献
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Unni Cecilie Nygaard Mari Samuelsen Audun Aase Martinus L?vik 《Toxicological sciences》2004,82(2):515-524
Particle exposure has traditionally been monitored as mass concentration of PM10 (particles with an aerodynamic diameter less than 10 microm), more recently also as PM2.5. The mass concentration is strongly influenced by the large particles. Therefore, particle mass is a poor measure for characterizing the amount of the small, possibly more biologically potent particles. We used polystyrene particles (PSP) ranging in diameter from 0.0588 to 11.14 microm, carbon black (CB), and diesel exhaust particles (DEP), to study the adjuvant effect of particles on the immune response to the allergen ovalbumin (OVA) after sc injection into the footpad of BALB/cA mice. At a given mass dose, the small particles (0.0588 and 0.202 microm PSP, CB, and DEP) increased the allergen-specific IgE serum levels to a substantially higher degree than the larger particles (1.053, 4.64, and 11.14 microm PSP). Further, in the draining lymph node during the primary response, the fine particles (0.202 microm) with OVA increased cell numbers, expression of surface markers (CD19, MHC class II, CD86, and CD23) and ex vivo production of IL-4 and IL-10, whereas the largest (11.14 microm) particles did not. Linear regression analyses indicated that the IgE response was not predicted by particle mass (R2 = 0.06), but was predicted by the total particle surface area (R2 = 0.64), number of particles (R2 = 0.62), and particle diameter (R2 = 0.58). In conclusion, we found that fine particles exerted stronger adjuvant effects on allergic responses than larger particles at equal mass doses. Consequently, the dose described as total particle surface area or particle number predicts the adjuvant effect of particles better than the currently used particle mass. 相似文献
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Cecilie Utke Rank Johanna Kremer Hovinga Magnus Mansouri Taleghani Bernhard Lämmle Jens Peter Gøtze Ove Juul Nielsen 《European journal of haematology》2014,92(2):168-171
Upshaw–Schulman syndrome (USS) is due to severe congenital deficiency of von Willebrand factor (VWF)‐cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26‐year‐old man, had attacks of thrombotic thrombocytopenic purpura (TTP) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had ADAMTS13 activity of <1% of normal plasma without the presence of inhibitors of ADAMTS13. ADAMTS13 deficiency was caused by two new mutations of the ADAMTS13 gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift (K681C fs X16), and a missense mutation in exon 25 (c.3368G>A) leading to p.R1123H. This case report confirms the importance of the analysis of the ADAMTS13 activity and its inhibitor in patients who have episodes of TTP, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis. 相似文献
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Chinn S Jarvis D Melotti R Luczynska C Ackermann-Liebrich U Antó JM Cerveri I de Marco R Gislason T Heinrich J Janson C Künzli N Leynaert B Neukirch F Schouten J Sunyer J Svanes C Vermeire P Wjst M Burney P 《Lancet》2005,365(9471):1629-35; discussion 1600-1
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Thomas Klopstock MD Aleksandar Videnovic MD Almut Turid Bischoff MD Cecilia Bonnet MD Laura Cif MD Cynthia Comella MD Marta Correa-Vela MD Maria L. Escolar MD Jamie L. Fraser MD Victoria Gonzalez MD Neal Hermanowicz MD Robert Jech MD Hyder A. Jinnah MD Tomasz Kmiec MD Anthony Lang MD Maria J. Martí MD Saadet Mercimek-Andrews MD Migvis Monduy MD Graeme A.M. Nimmo MBBS Belen Perez-Dueñas MD Helle Cecilie Viekilde Pfeiffer MD Lluis Planellas MD Emmanuel Roze MD Nivedita Thakur MD Laura Tochen MD Nora Vanegas-Arroyave MD Giovanna Zorzi MD Colleen Burns PhD Feriandas Greblikas MD 《Movement disorders》2021,36(6):1342-1352
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