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Tamanini F; Willemsen R; van Unen L; Bontekoe C; Galjaard H; Oostra BA; Hoogeveen AT 《Human molecular genetics》1997,6(8):1315-1322
Lack of expression of the fragile X mental retardation protein (FMRP)
results in mental retardation and macroorchidism, seen as the major
pathological symptoms in fragile X patients. FMRP is a cytoplasmic RNA-
binding protein which cosediments with the 60S ribosomal subunit. Recently,
two proteins homologous to FMRP were discovered: FXR1 and FXR2. These novel
proteins interact with FMRP and with each other and they are also
associated with the 60S ribosomal subunit. Here, we studied the expression
pattern of the three proteins in brain and testis by immunohistochemistry.
In adult brain, FMR1, FXR1 and FXR2 proteins are coexpressed in the
cytoplasm of specific differentiated neurons only. However, we observed a
different expression pattern in fetal brain as well as in adult and fetal
testis, suggesting independent functions for the three proteins in those
tissues during embryonic development and adult life.
相似文献
23.
Merchant DJ 《The Prostate》1980,1(2):215-225
Immunological and biochemical probes for viral genomes and products, growth in cell culture, co-culture methods to activate latent genomes, use of activating agents, and electron microscopy have been used in efforts to demonstrate RNA viruses in prostate cancer. Despite findings of C-type particles and p30 antigens, the role of RNA viruses appears to be secondary, with activation of the virogene being a relatively uncommon occurrence. No compelling evidence for Herpes II or cytomegalovirus as etiologic agents has emerged, despite their common presence in the urogenital tract. Though the search for integration of fragments of viral genome into host DNA is still in progress, it appears unlikely that these viruses would account for a significant number of prostate carcinomas. Progress has been achieved in developing simple, reliable, primary culture methods for human prostatic tissue, using explants or dispersed cells. Three cell lines, all from metastatic foci, have been established, are characterized, and are available for distribution. One neonatal cell strain retains many properties of normal prostate. 相似文献
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Robert M. Prins Martin R. Graf Randall E. Merchant Keith L. Black Christopher J. Wheeler 《Journal of neuro-oncology》2003,64(1):45-54
One of the hallmarks of patients with glioblastoma multiforme (GBM) is profound lymphopenia mostly confined to the T cell lineage. A deficiency in the production of naïve T cells from the thymus could contribute to the lymphopenia seen in GBM patients. In this study we asked whether thymic function and the production of recent thymic emigrant (RTE) T cells from the thymus was influenced by intracranial (i.c.) glioma progression. We found significant thymic involution in animals with progressive i.c. gliomas. Involuted thymi from animals with progressive i.c. T9.F gliomas showed dramatic losses of CD4+CD8+ (DP) thymocytes. Microscopic analysis complemented those findings by demonstrating a reversal of the typical cortico-medullary structure. Significant increases in apoptosis accompanied the rapid loss of viable thymocytes, which was prevented in part by adrenalectomy, suggesting a dominant role for endogenous glucocorticoids. This thymic involution was also associated with a significant decrease in peripheral RTE T cells, reflecting the diminished thymic function. Finally, we found that CD8+ RTE T cells were enriched in progressively growing T9 gliomas, which points to an immunological role for RTE's in anti-glioma immunity. Our findings may shed light on the significance of thymic function for anti-glioma immunity and the response to immunotherapeutic treatment paradigms. 相似文献
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OBJECTIVE: To describe an effective technique for mastoid cavity obliteration in canal wall down tympanomastoidectomy for chronic otitis media and review its efficacy in producing a dry, low-maintenance, small mastoid cavity. DESIGN:: Retrospective clinical study of a consecutive series of procedures from 1995 to 2000. SETTING: Tertiary referral center and institutional academic practice in otology and neurotology. PATIENTS: Sixty consecutive procedures for active chronic otitis media with a minimum follow-up of 12 months (mean, 31 mo; range, 12-80 mo). INTERVENTION: All patients had canal wall down mastoidectomy with simultaneous tympanoplasty including split-thickness skin grafting. An inferiorly pedicled, periosteal-pericranial flap was used in conjunction with autologous bone pate to obliterate the mastoid cavity. The additional length provided by the pericranial extension of the flap permitted it to reach superior to the lateral canal and into the sinodural angle, with improved coverage of bone pate and better reduction of cavity size. OUTCOME MEASURES: The primary outcome measure was control of suppuration and creation of a dry, low-maintenance mastoid cavity, which was assessed using a previously developed semiquantitative scale. This scale includes a temporal dimension to assess control of infection. Secondary outcome measures included postoperative complications (i.e., hematoma, infection, flap necrosis, and meatal stenosis) and incidence of recurrent or residual cholesteatoma. RESULTS: Forty-nine ears (82%) maintained a small, dry, healthy mastoid cavity. Five ears (8%) had intermittent otorrhea easily controlled by topical treatment. Six ears (10%) had suboptimal control of otorrhea, of which four had meatal stenosis. There were no residual or recurrent cholesteatomas. Outcomes remained stable over progressively longer follow-up, up to 80 months. CONCLUSION: Obliteration of a canal wall down mastoid cavity by a postauricular periosteal-pericranial flap with autologous bone pate is a reliable and effective technique that results in a dry, trouble-free mastoid cavity in 90% of patients with active chronic otitis media. 相似文献
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Surgical management of intra-abdominal desmoid tumours 总被引:4,自引:0,他引:4
Smith AJ Lewis JJ Merchant NB Leung DH Woodruff JM Brennan MF 《The British journal of surgery》2000,87(5):608-613
BACKGROUND: Intra-abdominal desmoids are uncommon neoplasms. The aggressive nature of these tumours and the potential for major morbidity secondary to resection can present a difficult surgical dilemma. METHODS: Patients with histologically confirmed intra-abdominal desmoid tumours undergoing laparotomy were identified from a prospective database. Clinical features and outcomes in this group were evaluated. RESULTS: The study group comprised 24 patients. Sixteen patients underwent complete resection of the tumour while eight had biopsy only, with or without intestinal bypass. Small intestinal resection was performed in 12 patients, including three who had a near-total enterectomy. Median follow-up was 62 months, with an actuarial overall survival rate of 73 per cent at 10 years. There was no difference in survival rate between completely resected and unresected patients (P = 0.73). There were seven deaths in the entire group, of which four were in those undergoing complete resection. CONCLUSION: Operation can cure patients with intra-abdominal desmoid tumours, but may result in significant morbidity, especially from loss of small intestine. No other therapy is a predictably good alternative to operation but the natural history of desmoids is often characterized by prolonged periods of stability or even regression. A period of watchful waiting, until significant symptoms develop, may be the most appropriate course in patients who risk mesenteric vascular injury or substantial enterectomy with attempts at resection. 相似文献
29.
Tanya M Tekautz Christine E Fuller Susan Blaney Maryam Fouladi Alberto Broniscer Thomas E Merchant Matthew Krasin James Dalton Gregory Hale Larry E Kun Dana Wallace Richard J Gilbertson Amar Gajjar 《Journal of clinical oncology》2005,23(7):1491-1499
PURPOSE: To describe clinical features, therapeutic approaches, and prognostic factors in pediatric patients with atypical teratoid/rhabdoid tumors (ATRT) treated at St Jude Children's Research Hospital (SJCRH). PATIENTS AND METHODS: Primary tumor samples from patients diagnosed with ATRT at SJCRH between July 1984 and June 2003 were identified. Pathology review included histologic, immunohistochemical analysis, and fluorescence in situ hybridization for SMARCB1 (also known as hSNF5/INI1) deletion. Clinical records of patients with pathologic confirmation of ATRT were reviewed. RESULTS: Thirty-seven patients were diagnosed with ATRT at SJCRH during the 19-year study interval. Six patients were excluded from this clinical review based on pathologic or clinical criteria. Of the remaining 31 patients, 22 were younger than 3 years. Posterior fossa primary lesions and metastatic disease at diagnosis were more common in younger patients with ATRT. All patients underwent surgical resection; 30 received subsequent chemotherapy. The majority of patients aged 3 years or older received postoperative craniospinal radiation. Two-year event-free (EFS) and overall survival (OS) of children aged 3 years or older (EFS, 78% + 14%; OS, 89% +/- 11%) were significantly better than those for younger patients (EFS, 11% +/- 6%; OS, 17% +/- 8%); EFS, P = .009 and OS, P = .0001. No other clinical characteristics were predictive of survival. Three of four patients 3 years or older with progressive disease were successfully rescued with ifosfamide, carboplatin, and etoposide therapy. CONCLUSION: Children presenting with ATRT before the age of 3 years have a dismal prognosis. ATRT presenting in older patients can be cured using a combination of radiation and high-dose alkylating therapy. Older patients with relapsed ATRT can have salvage treatment using ICE chemotherapy. 相似文献
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