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91.
Bennour A Sennana H Zaier M Ouahchi I Mrad Z Ben Youssef Y Khelif A Saad A 《Medical oncology (Northwood, London, England)》2012,29(2):1134-1136
Sex chromosomes are infrequently involved in patients with hematologic malignancies. In most instances, the abnormality is
either duplication in the q arm or deletion and translocation involving the q13 and q24 regions. We report herein a rare translocation
t(X;10)(p10;p10) in a newborn with 2 months and 20 days with acute myeloid leukemia (AML) (FAB, M4). Cytogenetic analysis
detected a cell clone with t(X;10)(p10;p10). Thus was confirmed by FISH analysis with whole chromosome painting (WCP) specific
for chromosomes X and 10. The patient was treated with chemotherapy, and a complete morphologic and cytogenetic remission
was achieved. To our knowledge, our case is the first report of a neonatal AML4 with t(X; 10). The patient had an excellent
early response to a salvage AML-type therapy. The prognostic significance of the t(X; 10) in this setting remains unclear.
Due to the rarity of this translocation, further cytogenetic and molecular biologic studies are required to elucidate the
clinical and molecular significance of this unusual karyotypic finding. 相似文献
92.
Korbi Mouna M.D. Hayet Akkari M.D. Hammedi Faten M.D. Kadri Yosra M.D. Belhadjali Hichem Ph.D. Mastouri Maha Ph.D. Zakhama Abdelfatteh Ph.D. Zili Jamelledine Ph.D. 《Pediatric dermatology》2015,32(4):e179-e180
Ecthyma gangrenosum is a characteristic lesion of Pseudomonas aeruginosa sepsis in immunocompromised patients. Only eight cases of ecthyma gangrenosum caused by Escherichia coli have been reported. We report a case of ecthyma gangrenosum due to E. coli without bacteremia in a previously healthy girl. 相似文献
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Romdhane Emna Rammeh Soumaya Bouaziz Chelli Mouna Riahi Hend Ben Meriam Rekaya Ksentini Meriam Chebbi Yosra Achour Wafa Ferjani Asma Boutiba Ben Boubaker Ilhem Slim-Saidi Leila Ladeb Mohamed Fethi 《Clinical rheumatology》2021,40(10):4317-4323
Clinical Rheumatology - Tuberculous Spondylodiscitis is the most common form of musculoskeletal tuberculosis. Molecular techniques on fresh tissues are proved to improve the diagnosis of... 相似文献
95.
Yosra Bouyacoub Salim Ben Yahia Nesrine Abroug Rim Kahloun Rym Kefi Moncef Khairallah Sonia Abdelhak 《Annals of human genetics》2014,78(4):255-263
Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis is therefore required. This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. Genomic DNA was extracted and the coding regions of CYP1B1 were analysed by direct sequencing. A phylogenetic network of CYP1B1 haplotypes was drawn using the median‐joining algorithm. Sequence analysis revealed a “tetra‐allelic mutation” (two novel mutations, p.F231I and p.P437A in the homozygous state) in one patient. The healthy members of his family carried those variations on the same allele. Two previously described mutations p.G61E and c.535delG were also identified in the homozygous state in seven and two probands, respectively. Seven single‐nucleotide polymorphisms were identified and used to generate haplotypes. Our results showed that the CYP1B1 mutations were present in 55% of Tunisian PCG patients’ alleles. Haplotype analysis allowed us to define the proto‐haplotype and to confirm historical migratory flows. Establishment of PCG genetic aetiology in Tunisia will improve genetic diagnosis and counselling. 相似文献
96.
Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) are two different liver diseases, however diagnosis criteria of these two affections can be found in a same patient. The aim of this study is to relate the clinical, serologic and histologic features of patients presenting the overlap syndrome, AIH-PBC, defined by the presence of at least of two main criteria of each disease and to evaluate their response to therapy. PATIENTS AND METHODS: This was a retrospective study concerning patients presenting overlap syndrome diagnosed between January 1998 and December 2001. These patients had been treated with ursodesoxycholic acid (AUDC) or prednisone and azathioprine or a combination of these three products. Clinical and biological criteria were used to assess response to therapy. RESULTS: Five patients fulfilled the diagnostic criteria of overlap syndrome. All patients were females, the median age was 38 years (range: 19-65 years). Three patients were treated by UDCA, a clinical and biological response was noted in only one patient. Two patients were treated by prednisone and azathioprine without any remission. Three patients were treated by a combination of these three products with a good response in two cases. CONCLUSION: Optimal treatment for overlap AIH-PBC syndrome remains to be determined. Treatment with UDCA or immunosuppressor alone is not efficient. A combination of these drugs should be evaluated in further studies. 相似文献
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Khaled A. Ahmad Yosra A. Ibrahim Nayera Z. Saber Bassem A. Darwish 《The Egyptian Journal of Radiology and Nuclear Medicine》2014