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排序方式: 共有235条查询结果,搜索用时 171 毫秒
231.
Arisa Muratsu Tomoya Hirose Mitsuo Ohnishi Jotaro Tachino Shunichiro Nakao Ryosuke Takegawa Tomohiko Sakai Tadahiko Shiozaki Takeshi Shimazu 《Clinical Case Reports》2021,9(8)
The regional oxygen saturation (rSO₂) values of brain and muscle tissues can be measured simultaneously even if blood pressure cannot be measured due to circulatory failure associated with shock and may continuously reflect the oxygen supply‐demand balance. 相似文献
232.
Takae Seido Oyama Ikkei Abe Mukyo Sugo Hideo Kusano Yumari Imaoka Yoichiro Makino Yuka Ukai Arisa Mitsuyama Yuko Fujino Chiaki Miyamoto Rieka Yoshimura Manami Yamada Kaoru Suzuki Nao 《International journal of clinical oncology / Japan Society of Clinical Oncology》2023,28(1):191-200
International Journal of Clinical Oncology - The focus on cancer in adolescents and young adults (AYA) has increased in recent years. We participated in an event called AYA week 2021 as part of a... 相似文献
233.
Reika Takamatsu Kohei Nakamura Okihide Suzuki Chihiro Okada Ryo Mori Ryutaro Kawano Hideyuki Hayashi Marin Ishikawa Eriko Aimono Sachio Nohara Shigeki Tanishima Arisa Ueki Hideyuki Ishida Hiroshi Nishihara 《Cancer science》2023,114(7):2848-2859
The microsatellite instability (MSI)/mismatch repair (MMR) status is one of the critical genomic biomarkers for predicting patient response to immune checkpoint inhibitors (ICIs). In this study, we aimed to investigate the concordance among the MSIsensor score obtained from whole-exome sequencing (WES), which could be a futuristic clinical cancer sequencing method, using only tumor tissues, MSI-PCR results, and immunohistochemistry (IHC) results to analyze various solid cancer types. We first endeavored to set the cut-off value of MSIsensor to determine functional deficient mismatch repair (f-dMMR) status. The MSI status of 1054 patients analyzed using WES was evaluated using MSIsensor. In addition, 87 of these patients were further analyzed using MSI-PCR and MMR IHC to calculate the sensitivity and specificity of the MSIsensor cut-off score. Our results showed that score 12.5 was an adequate cut-off score equivalent to PCR-confirmed MSS/MSI-low and MSI-high statuses, with sensitivity, specificity, and area under the curve values of 95.2%, 100%, and 0.998, respectively. Moreover, we identified false-positive cases of tumors with high mutational burden with an MSIsensor score <12.5, and optional IHC examination could rescue these cases. In conclusion, the MSIsensor score obtained using WES with tumor tissue showed a high clinical validity, with a cut-off value of 12.5 for f-dMMR detection, in combination with optional IHC analysis for MMR. Our novel algorithm will provide insights into the development of ICIs for cancer treatment, particularly when WES becomes a more common cancer genomic test in the near future. 相似文献
234.
Kazuki Yamazawa Kokichi Sugano Kohji Tanakaya Satomi Inoue Haruka Murakami Moeko Nakashima Masataka Adachi Shinya Oki Takeshi Makabe Hiroshi Yamashita Arisa Ueki Ayako Sasaoka Ayako Nakashoji Takayuki Kinoshita Tatsuo Matsunaga Masami Arai Seigo Nakamura Hiroaki Miyata Masachika Ikegami Hiroyuki Mano Shinji Kohsaka Akira Matsui 《Cancer science》2023,114(7):2993-3002
Substantial numbers of variants of unknown significance (VUSs) have been identified in BRCA1/2 through genetic testing, which poses a significant clinical challenge because the contribution of these VUSs to cancer predisposition has not yet been determined. Here, we report 10 Japanese patients from seven families with breast or ovarian cancer harboring the BRCA2 c.7847C>T (p.Ser2616Phe) variant that was interpreted as a VUS. This variant recurs only in families from Japan and has not been reported in the global general population databases. A Japanese patient with Fanconi anemia with compound heterozygous variants c.7847C>T (p.Ser2616Phe) and c.475+1G>A in BRCA2 was reported. In silico predictions and quantitative cosegregation analysis suggest a high probability of pathogenicity. The clinical features of the variant carriers were not specific to, but were consistent with, those of patients with hereditary breast and ovarian cancer. A validated functional assay, called the mixed-all-nominated-in-one-BRCA (MANO-B) method and the accurate BRCA companion diagnostic (ABCD) test, demonstrated the deleterious effects of the variant. Altogether, following the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines, this variant satisfied the “PS3,” “PM2,” “PM3,” and “PP3” criteria. We thus conclude that the BRCA2 c.7847C>T (p.Ser2616Phe) variant is a “likely pathogenic” variant that is specifically observed in the Japanese population, leading to a breast and ovarian cancer predisposition. 相似文献
235.
Yuri Kawashima Arisa H. Oda Yasushi Hikida Kunihiro Ohta 《Genes to cells : devoted to molecular & cellular mechanisms》2023,28(2):129-148
Deficiency in meiotic recombination leads to aberrant chromosome disjunction during meiosis, often resulting in the lethality of gametes or genetic disorders due to aneuploidy formation. Budding yeasts lacking Spo11, which is essential for initiation of meiotic recombination, produce many inviable spores in meiosis, while very rarely all sets of 16 chromosomes are coincidentally assorted into gametes to form viable spores. We induced meiosis in a spo11∆ diploid, in which homolog pairs can be distinguished by single nucleotide polymorphisms and determined whole-genome sequences of their exceptionally viable spores. We detected no homologous recombination in the viable spores of spo11∆ diploid. Point mutations were fewer in spo11∆ than in wild-type. We observed spo11∆ viable spores carrying a complete diploid set of homolog pairs or haploid spores with a complete haploid set of homologs but with aneuploidy in some chromosomes. In the latter, we found the chromosome-dependence in the aneuploid incidence, which was positively and negatively influenced by the chromosome length and the impact of dosage-sensitive genes, respectively. Selection of aneuploidy during meiosis II or mitosis after spore germination was also chromosome dependent. These results suggest a pathway by which specific chromosomes are more prone to cause aneuploidy, as observed in Down syndrome. 相似文献