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A. Dolo B. Maiga A. Guindo S. A. S. Diakité M. Diakite A. Tapily M. Traoré B. Sangaré C. Arama M. Daou O. Doumbo 《Bulletin de la Societe de pathologie exotique (1990)》2014,107(3):165-170
Erythrocyte G6PD deficiency is the most common worldwide enzymopathy. The aim of this study was to determine erythrocyte G6PD deficiency in 3 ethnic groups of Mali and to investigate whether erythrocyte G6PD deficiency was associated to the observed protection against malaria seen in Fulani ethnic group. The study was conducted in two different areas of Mali: in the Sahel region of Mopti where Fulani and Dogon live as sympatric ethnic groups and in the Sudanese savannah area where lives mostly the Malinke ethnic group. The study was conducted in 2007 in Koro and in 2008 in Naguilabougou. It included a total 90 Dogon, 42 Fulani and 80 Malinke ethnic groups. Malaria was diagnosed using microscopic examination after Giemsa-staining of thick and thin blood smear. G6PD deficiency (A-376/202) samples were identified using RFLP (Restriction Fragment Length Polymorphism) assay and analysis of PCR-amplified DNA amplicon. G6PD deficiency (A-376/202) rate was 11.1%, 2.4%, and 13.3% in Dogon, Fulani, and Malinke ethnic group respectively. Heterozygous state for G6PD (A-376/202) was found in 7.8% in Dogon; 2.4% in Fulani and 9.3% in Malinke ethnic groups while hemizygous state was found at the frequency of 2.2% in Dogon and 4% in Malinke. No homozygous state was found in our study population.We conclude that G6PD deficiency is not differing significantly between the three ethnic groups, Fulani, Dogon and Malinke. 相似文献
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Functional ability is the basis of healthy aging. Articular cartilage degeneration is amongst the most prevalent degenerative conditions that cause adverse impacts on the quality of life; moreover, it represents a key predisposing factor to osteoarthritis (OA). Both the poor capacity of articular cartilage for self-repair and the unsatisfactory outcomes of available clinical interventions make innovative tissue engineering a promising therapeutic strategy for articular cartilage repair. Significant progress was made in this field; however, a marked heterogeneity in the applied biomaterials, biofabrication, and assessments is nowadays evident by the huge number of research studies published to date. Accordingly, this literature review assimilates the most recent advances in cell-based and cell-free tissue engineering of articular cartilage and also focuses on the assessments performed via various in vitro studies, ex vivo models, preclinical in vivo animal models, and clinical studies in order to provide a broad overview of the latest findings and clinical translation in the context of degenerated articular cartilage and OA. 相似文献
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S. Khalil R. Hayashi L. Daou S. A. Staiteieh O. Abbas C. Bergqvist G. Nemer Y. Shimomura M. Kurban 《Clinical and experimental dermatology》2017,42(3):313-315
The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including the R‐spondin family of proteins. Deactivating mutations in R‐spondin 4 are associated with anonychia. We present the case of a 26‐year‐old man presenting with anonychia of the 20 nails, which had been present since birth. Using genetic studies, we identified a novel nonsense mutation, c.164‐165TC>AA, characterized by two consecutive mismatch bases. To our knowledge, this mutation is the first to be reported in R‐spondin 4 in a Lebanese population. Evaluating new patients with anonychia provides fruitful clinical and molecular findings. 相似文献
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Chababy M Daou R Aftimos G 《Le Journal médical libanais. The Lebanese medical journal》2002,50(1-2):70-73
We report a case of adenoid cystic carcinoma of the breast in a 62-year-old lady. This tumor is a rare histologic form of breast cancer, associated with a favorable prognosis, and a special clinical behavior. It is mainly diagnosed on morphological grounds, by identifying two populations of neoplastic basaloid myoepithelial and epithelial cells with extracellular deposits of eosinophilic basement membrane-like substance. Lymph node metastases are rare. Partial or simple mastectomy is an adequate treatment. Axillary lymph node dissection may not be necessary. 相似文献
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Doublecortin (DCX) is required for neuroblastic migration during the development of the cerebral cortex. DCX is a microtubule-associated protein that plays a role in cellular motility. These facts led us to hypothesize that DCX is increased in invasive brain tumors. DCX expression was assessed in 69 paraffin-embedded brain tumors of neuroepithelial origin. In addition, mouse brain sections of the subventricular zone and dentate gyrus were used as positive controls for immunostaining, and specificity of antibody staining was demonstrated by peptide neutralization. DCX was highly expressed in both high-grade invasive tumors (glioblastoma, n=11; anaplastic astrocytoma/oligoastrocytoma, n=7; and medulloblastoma/PNET, n=6) and low-grade invasive tumors (oligodendroglioma, n=3; and astrocytoma/oligoastrocytoma, n=5). However, DCX was less intensely expressed in the circumscribed group of tumors (pilocytic astrocytoma, n=6; ependymoma/subependymoma, n=7; dysembryoplastic neuroepithelial tumor, n=4; ganglioglioma, n=2; meningioma, n=9; and schwannoma, n=9). By the Cochran-Mantel-Haenszel statistical test, the circumscribed group was significantly different from both the high-grade invasive group (P<0.0001) and the low-grade invasive group (P<0.0001). We conclude that DCX is preferentially expressed in invasive brain tumors. In addition, DCX immunostaining was stronger at the margin of the tumor than at the center. For a subset of these tumors, we also detected DCX mRNA and protein by Northern and Western blotting. DCX mRNA and protein was detected in glioma cell lines by Northern blotting, immunofluorescence microscopy and Western blotting. Collectively, the immunohistochemistry, Western blots and Northern blots conclusively demonstrate expression of DCX by human brain tumors. 相似文献
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Tarek Y. El Ahmadieh Salah G. Aoun Marc R. Daou Najib E. El Tecle Rudy J. Rahme Randall B. Graham Joseph G. Adel H. Hunt Batjer Bernard R. Bendok 《Journal of clinical neuroscience》2013,20(10):1350-1356
A new generation of oral anticoagulants, namely direct thrombin inhibitors and factor Xa inhibitors, have recently been approved for clinical use in patients with atrial fibrillation. These novel families of drugs have been shown to have favorable efficacy and safety profiles in multiple clinical settings, particularly in the prevention of atrial fibrillation-related stroke, and are likely to become part of everyday practice, making a crossover to neurosurgical patients inevitable. Concern has risen regarding the complexity of managing intracranial and intraspinal hemorrhages related to these drugs. This review aims to provide an update on the most recent advances in oral anticoagulant drug therapy from a neurosurgeon’s perspective. We discuss current evidence for the use of these novel agents, their limitations, existing methods of drug-level monitoring, and controversies related to anticoagulation reversal. We also discuss specific topics such as anticoagulation resumption after intracranial or intraspinal bleeding, perioperative anticoagulant administration, and the possibility of combination with tissue plasminogen activator in the setting of acute ischemic stroke. A special focus is given to the incidence of intracranial and intraspinal hemorrhage associated with each drug. 相似文献