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排序方式: 共有614条查询结果,搜索用时 15 毫秒
1.
Tlili A Charfedine I Lahmar I Benzina Z Mohamed BA Weil D Idriss N Drira M Masmoudi S Ayadi H 《Human mutation》2005,25(5):503
Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting for approximately 80% of cases of genetic deafness. To date, 22 genes implicated in ARNSHL have been identified. Recently a gene, DFNB31/WHRN, which encodes a putative PDZ scaffold protein called whirlin, was found to be responsible for the ARNSHL DFNB31. We found evidence for linkage to the DFNB31locus in a consanguineous Tunisian family segregating congenital profound ARNSHL. Mutation screening of DFNB31/WHRNrevealed four nonpathogenic sequence variants and a novel frameshift mutation [c.2423delG] + [c.2423delG] that changed the reading frame and induced a novel stop codon at amino acid 818 ([p.Gly808AspfsX11] + [p.Gly808AspfsX11]). To determine the contribution of the DFNB31locus in the childhood deafness, we performed linkage analysis in 62 unrelated informative families affected with ARNSHL. No linkage was found to this locus. From this study, we concluded that DFNB31/WHRN is most likely to be a rare cause of ARNSHL in the Tunisian population. 相似文献
2.
Parra ER Canzian M Saber AM Coêlho RS Rodrigues FG Kairalla RA de Carvalho CR Capelozzi VL 《Pathology, research and practice》2004,200(10):701-705
Previous reports indicate that enlarged hilar and mediastinal lymph nodes caused by sarcoid-like reactions may develop after curative resection of cancer, and their presence does not necessarily denote neoplastic recurrence. Reports further suggest that coexisting pulmonary infiltrates in this setting may be related to sarcoidosis. In this study, we describe two patients who had resected lung and gastric cancer and who later developed pulmonary interstitial infiltrate, concurrent with progressive mediastinal lymphadenopathy initially thought to be caused by intrathoracic dissemination of their cancer. These changes were shown by open lung biopsy to be a benign, granulomatous reaction interpreted as sarcoidosis. Thus, it is important to recognize this clinical pattern when pulmonary infiltrates develop after complete treatment of cancer in an otherwise relapse-free patient and to encourage lung or lymph node biopsy in these particular settings in order to confirm a sarcoid-like reaction, thereby avoiding unnecessary chemotherapy for presumed tumor recurrence. 相似文献
3.
Abdel Aal TM Youssef FG el-Hady HM Sabry NM Habib KS Saber JM 《The Journal of the Egyptian Public Health Association》1996,71(3-4):321-341
Three serological tests: Immunodiffusion (ID), Counterimmunoelectrophoresis (CIEP) and Enzyme-linked immunosorbent assay (ELISA) were used to study the role of crude adult worm antigen (CAWA) of Toxocara canis and each of its purified fractions in the serodiagnosis of human toxocariasis. Sensitivities of the three tests were lower in the ocular than in the visceral group, using different antigens. Purified fraction 1 showed more sensitive and specific reactions in the three tests, compared to CAWA or purified fraction 2 (P-F2) antigen. The other purified fractions (P-F3, P-F4 and P-F5) gave no positive reactions in any of the three tests. Using P-F1 antigen, ELISA was the most sensitive technique for diagnosis of both visceral and ocular toxocariasis followed by CIEP and then ID and the difference was statistically significant. However, CIEP was the most specific test followed by ELISA and lastly ID test. The ELISA test using Excretory-Secretory (E-S) larval antigen of Toxocara canis was less sensitive than the ELISA test using P-F1, although it was 100% specific. Thus, ELISA test using P-F1 is the test of choice for diagnosis of human toxocariasis, but when the specificity of a reaction is in doubt, CIEP test using the same antigen can be of value. 相似文献
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Congyuan Zeng Hamed Ghadimi Huan Ding Saber Nemati Abdelrahman Garbie Jonathan Raush Shengmin Guo 《Materials》2022,15(10)
In this paper, the phase structure, composition distribution, grain morphology, and hardness of Al6061 alloy samples made with additive friction stir deposition (AFS-D) were examined. A nearly symmetrical layer-by-layer structure was observed in the cross section (vertical with respect to the fabrication-tool traversing direction) of the as-deposited Al6061 alloy samples made with a back-and-forth AFS-D strategy. Equiaxed grains were observed in the region underneath the fabrication tool, while elongated grains were seen in the “flash region” along the mass flow direction. No clear grain size variance was discovered along the AFS-D build direction except for the last deposited layer. Grains were significantly refined from the feedstock (~163.5 µm) to as-deposited Al6061 alloy parts (~8.5 µm). The hardness of the as-fabricated Al6061 alloy was lower than those of the feedstock and their heat-treated counterparts, which was ascribed to the decreased precipitate content and enlarged precipitate size. 相似文献
6.
Ehab Atallah Kathryn Bylow Jesse Troy Wael Saber 《Current hematologic malignancy reports》2014,9(1):57-65
MDS are myeloid clonal hematologic disorders that are most commonly diagnosed in the seventh decade of life. Several treatment options are currently available. However, allo HSCT remains the only curative therapy. Unfortunately, despite the higher incidence of MDS in the older population, less than 10 % of patients undergoing allo HSCT for MDS are > 65 years old. In this paper we discuss the various treatment options in older patients with high-risk MDS with particular emphasis on the role of allo HSCT in older MDS patients. 相似文献
7.
Role of vitamin C as an adjuvant therapy to different iron chelators in young β‐thalassemia major patients: efficacy and safety in relation to tissue iron overload 下载免费PDF全文
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