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21.
Aldea A Campistol JM Arostegui JI Rius J Maso M Vives J Yagüe J 《American journal of medical genetics. Part A》2004,(1):67-73
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. Colchicine is the standard FMF treatment today, and prevents both attacks and amyloid deposition in 95% of patients. Here we describe a three-generation Spanish kindred with five family members affected by a severe periodic inflammatory disorder associated with renal AA amyloidosis and colchicine unresponsiveness. Clinical diagnosis of definite FMF disease was made based on the Tel-Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new H478Y MEFV variant, segregating with the disease. In addition, mutations in the TNFRSF1A and CIAS1/PYPAF1/NALP3 genes, related to the dominantly inherited autoinflammatory periodic syndromes, were ruled out. However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another MEFV-associated periodic syndrome. We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations. 相似文献
22.
Montserrat Plana Odette Vias Oscar de la Calle-Martin Francisco Lozano Julia Ingls-Esteve Matilde Romero Jos Alberola-Ila Jordi Yagüe Ramn Vilella Jordi Vives 《European journal of immunology》1991,21(4):1085-1088
The ability of the 134-2C2 monoclonal antibody (mAb; CD26) to transmit an activation signal and to affect T cell proliferation has been studied. The 134-2C2 mAb, although not being mitogenic by itself, is able to increase the proliferation of purified T cells in the presence of exogenous interleukin 2 (IL2) or phorbol 12-myristate 13-acetate (PMA). No effect of our mAb was observed on the proliferation of T cells induced by other stimuli such as Sepharose-bound CD3 mAb, phytohemagglutinin or calcium ionophore. Since the co-stimulatory effect of 134-2C2 mAb on PMA-induced T cell proliferation was strongly inhibited by an anti-Tac antibody, its involvement on the IL2/IL2 receptor pathway was investigated. An increased IL2 secretion in T cells cultured with PMA plus 134-2C2 mAb was observed and Northern blot analysis showed that the mAb 134-2C2 acts synergistically with PMA favoring the induction of both IL2 and interferon-γ mRNA synthesis, as well as the enhancement of IL2 receptor and transferrin receptor mRNA expression. Studies on mechanisms implicated in signal transduction showed that 134-2C2 mAb modifies neither intracellular calcium levels nor phosphoinositide breakdown. Additionally, no effect was exerted on protein kinase C translocation. These data suggest that the CD26 antigen is involved in T cell activation in an IL2/IL2 receptor-dependent pathway. 相似文献
23.
Aránzazu Caballero-Marcos Magdalena Salcedo Roberto Alonso-Fernández Manuel Rodríguez-Perálvarez María Olmedo Javier Graus Morales Valentín Cuervas-Mons Alba Cachero Carmelo Loinaz-Segurola Mercedes Iñarrairaegui Lluís Castells Sonia Pascual Carmen Vinaixa-Aunés Rocío González-Grande Alejandra Otero Santiago Tomé Javier Tejedor-Tejada José María Álamo-Martínez Luisa González-Diéguez Flor Nogueras-Lopez Gerardo Blanco-Fernández Gema Muñoz-Bartolo Francisco Javier Bustamante Emilio Fábrega Mario Romero-Cristóbal Rosa Martin-Mateos Julia Del Rio-Izquierdo Ana Arias-Milla Laura Calatayud Alberto A. Marcacuzco-Quinto Víctor Fernández-Alonso Concepción Gómez-Gavara Jordi Colmenero Patricia Muñoz José A. Pons the Spanish Society of Liver Transplantation 《American journal of transplantation》2021,21(8):2876-2884
The protective capacity and duration of humoral immunity after SARS-CoV-2 infection are not yet understood in solid organ transplant recipients. A prospective multicenter study was performed to evaluate the persistence of anti-nucleocapsid IgG antibodies in liver transplant recipients 6 months after coronavirus disease 2019 (COVID-19) resolution. A total of 71 liver transplant recipients were matched with 71 immunocompetent controls by a propensity score including variables with a well-known prognostic impact in COVID-19. Paired case–control serological data were also available in 62 liver transplant patients and 62 controls at month 3 after COVID-19. Liver transplant recipients showed a lower incidence of anti-nucleocapsid IgG antibodies at 3 months (77.4% vs. 100%, p < .001) and at 6 months (63.4% vs. 90.1%, p < .001). Lower levels of antibodies were also observed in liver transplant patients at 3 (p = .001) and 6 months (p < .001) after COVID-19. In transplant patients, female gender (OR = 13.49, 95% CI: 2.17–83.8), a longer interval since transplantation (OR = 1.19, 95% CI: 1.03–1.36), and therapy with renin–angiotensin–aldosterone system inhibitors (OR = 7.11, 95% CI: 1.47–34.50) were independently associated with persistence of antibodies beyond 6 months after COVID-19. Therefore, as compared with immunocompetent patients, liver transplant recipients show a lower prevalence of anti-SARS-CoV-2 antibodies and more pronounced antibody levels decline. 相似文献
24.
Lorente Nicolas Sherriff Nigel Panochenko Oksana Marcus Ulrich Dutarte Maria Kuske Matthias Aussó Susanna Huber Jörg Krone Michael Schink Susanne Barbara Cawley Caoimhe Casabona Jordi Folch Cinta 《Journal of community health》2021,46(3):545-556
Journal of Community Health - Little is known about Community Health Workers (CHWs) who work in non-clinical settings to provide sexual health support around HIV, viral hepatitis, and other... 相似文献
25.
Carolina Armengol Gemma Tarafa Loreto Boix Manel Solé Rosa Queralt Dolors Costa Oriol Bachs Jordi Bruix Gabriel Capellá 《Clinical cancer research》2004,10(6):2150-2157
PURPOSE: To allow the longitudinal investigation of molecular events associated with the progression of human hepatocellular carcinoma (HCC), we sought to develop a murine model by orthotopic implantation of tumor fragments obtained from patients diagnosed at early stage. EXPERIMENTAL DESIGN: Tumor pieces (2 x 2 mm) were implanted on the liver surface of nu/nu mice. After xenograft growing, subsequent passages were performed to achieve long-term implant viability. Isolation of tumoral hepatocytes was done to establish new cell lines. HCC characteristics, proliferation rate, apoptotic index (terminal deoxynucleotidyl transferase-mediated nick end labeling), and expression of cell-cycle regulators (cyclins E and A, p21(Cip1), p27(Kip1), p16(INK4a), pRb, and p53) were assessed by Western Blot and immunohistochemistry, to correlate them with tumor progression. RESULTS: Five (50%) of the 10 primary HCCs resulted in small slow-growing liver implants. Three of them are viable after 48 months, whereas the remaining two survived for 15 and 13 months. Xenografts throughout passages exhibited a more aggressive phenotype with a poorer degree of differentiation, intense proliferation, moderate apoptosis, cell-cycle deregulation, p53 alterations, microvascular invasion, and dissemination. In one single passage, we observed critical growth delay, which was associated with significant p27(kip1) overexpression. We established the anchor-free growing BCLC-9 cell line from one xenograft. This has gains of chromosomes 7, 5p, 6q, and 9q, is hepatitis B virus-DNA positive, does not secrete alpha-fetoprotein, and has TP53 missense mutations in codons 192 and 242. CONCLUSIONS: The orthotopic implantation of early HCC fragments in nude mice provides a useful model to investigate the mechanisms of human HCC evolution and to establish new cell lines. 相似文献
26.
Behavioral and pathological effects in the rat define two groups of neurotoxic nitriles. 总被引:2,自引:0,他引:2
Adult male Long-Evans rats (250-350 g) received control vehicles, 3,3'-iminodipropionitrile (IDPN, 400 mg kg(-1) day(-1)), allylnitrile (50 mg kg(-1) day(-1)), cis-crotononitrile (110 mg kg(-1) day(-1)), trans-crotononitrile (250 mg kg(-1) day(-1)), or 2,4-hexadienenitrile (300 mg kg(-1) day(-1)), i.p., for 3 consecutive days. Rats treated with IDPN, allylnitrile, and cis-crotononitrile developed the ECC (excitation with circling and choreiform movements) syndrome, whereas those treated with trans-crotononitrile and hexadienenitrile exhibited a different syndrome, characterized by faltering movements. On quantitative analysis, IDPN, allylnitrile, and cis-crotononitrile induced high scores in a test battery for vestibular dysfunction and hyperactivity in the open field, but they did not significantly decrease stride length. Hexadienenitrile and trans-crotononitrile did not increase the vestibular scores or the locomotor activity, but they caused a marked decrease in stride length; they also decreased holding time on a vertical ladder. In brain and spinal cord tissue from rats exposed to IDPN, allylnitrile, or cis-crotononitrile, Fluoro-Jade B, a selective stain for degenerating neurons, did not reveal any labeling other than that of nerve terminals in the glomeruli of the olfactory bulbs, indicating degeneration of the olfactory mucosa. With the same stain, rats exposed to trans-crotononitrile or hexadienenitrile showed a common pattern of selective neurotoxicity; major targets were the inferior olive and the piriform cortex. Hexadienenitrile did not cause hair cell degeneration in the vestibular and auditory sensory epithelia. Present and previous data indicate that neurotoxic nitriles induce one or the other of two different motor syndromes, through either vestibular hair cell degeneration or neuronal degeneration of the inferior olive. 相似文献
27.
Allogeneic stem-cell transplantation may overcome the adverse prognosis of unmutated VH gene in patients with chronic lymphocytic leukemia. 总被引:2,自引:0,他引:2
Carol Moreno Neus Villamor Dolors Colomer Jordi Esteve Rodrigo Martino Josep Nomdedéu Francesc Bosch Armando López-Guillermo Elías Campo Jorge Sierra Emili Montserrat 《Journal of clinical oncology》2005,23(15):3433-3438
PURPOSE: To investigate whether allogeneic stem-cell transplantation (allo-SCT) may overcome the negative impact of unmutated VH genes in the outcome of patients with chronic lymphocytic leukemia (CLL). PATIENTS AND METHODS: We analyzed the outcome of patients who underwent SCT according to their VH mutational status. RESULTS: Thirty-four patients (14 allo-SCT and 20 autologous SCT [auto-SCT]) presented unmutated VH genes and 16 patients presented mutated VH genes (nine allo-SCT and seven auto-SCT). Tumoral burden pre-SCT was significantly higher in the allo-SCT patients independent of the VH mutational status. The risk of relapse was significantly higher after auto-SCT (5-year risk, 61%; 95% CI, 44% to 84%) than after allo-SCT (5-year risk 12%, 95% CI, 3% to 44%; P < .05). In the unmutated group, 13 of 20 auto-SCT and two of 14 allo-SCT patients experienced disease progression, with a risk of relapse at 5 years of 66% (95% CI, 48% to 93%) v 17% (95% CI, 5% to 60%), respectively (P = .01). CONCLUSION: These results show that allo-SCT may overcome the unfavorable effect of unmutated VH genes in patients with CLL. 相似文献
28.
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30.
Josep M. Solé-Sedeño Antonio Gil-Moreno Asunción Pérez-Benavente José M. Martínez i Palones Ángel García Jordi Xercavins 《Progresos de Obstetricia y Ginecología》2008