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排序方式: 共有206条查询结果,搜索用时 171 毫秒
71.
Helias V Saison C Ballif BA Peyrard T Takahashi J Takahashi H Tanaka M Deybach JC Puy H Le Gall M Sureau C Pham BN Le Pennec PY Tani Y Cartron JP Arnaud L 《Nature genetics》2012,44(2):170-173
The human ATP-binding cassette (ABC) transporter ABCB6 has been described as a mitochondrial porphyrin transporter essential for heme biosynthesis, but it is also suspected to contribute to anticancer drug resistance, as do other ABC transporters located at the plasma membrane. We identified ABCB6 as the genetic basis of the Lan blood group antigen expressed on red blood cells but also at the plasma membrane of hepatocellular carcinoma (HCC) cells, and we established that ABCB6 encodes a new blood group system (Langereis, Lan). Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. This is the first report of deficient alleles of this human ABC transporter gene. Of note, Lan(-) (ABCB6(-/-)) individuals do not suffer any clinical consequences, although their deficiency in ABCB6 may place them at risk when determining drug dosage. 相似文献
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73.
Fujimoto A Totoki Y Abe T Boroevich KA Hosoda F Nguyen HH Aoki M Hosono N Kubo M Miya F Arai Y Takahashi H Shirakihara T Nagasaki M Shibuya T Nakano K Watanabe-Makino K Tanaka H Nakamura H Kusuda J Ojima H Shimada K Okusaka T Ueno M Shigekawa Y Kawakami Y Arihiro K Ohdan H Gotoh K Ishikawa O Ariizumi S Yamamoto M Yamada T Chayama K Kosuge T Yamaue H Kamatani N Miyano S Nakagama H Nakamura Y Tsunoda T Shibata T Nakagawa H 《Nature genetics》2012,44(7):760-764
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related death worldwide. We sequenced and analyzed the whole genomes of 27 HCCs, 25 of which were associated with hepatitis B or C virus infections, including two sets of multicentric tumors. Although no common somatic mutations were identified in the multicentric tumor pairs, their whole-genome substitution patterns were similar, suggesting that these tumors developed from independent mutations, although their shared etiological backgrounds may have strongly influenced their somatic mutation patterns. Statistical and functional analyses yielded a list of recurrently mutated genes. Multiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in ~50% of the tumors. Hepatitis B virus genome integration in the TERT locus was frequently observed in a high clonal proportion. Our whole-genome sequencing analysis of HCCs identified the influence of etiological background on somatic mutation patterns and subsequent carcinogenesis, as well as recurrent mutations in chromatin regulators in HCCs. 相似文献
74.
Akamatsu S Takata R Haiman CA Takahashi A Inoue T Kubo M Furihata M Kamatani N Inazawa J Chen GK Le Marchand L Kolonel LN Katoh T Yamano Y Yamakado M Takahashi H Yamada H Egawa S Fujioka T Henderson BE Habuchi T Ogawa O Nakamura Y Nakagawa H 《Nature genetics》2012,44(4):426-9, S1
We have previously reported multiple loci associated with prostate cancer susceptibility in a Japanese population using a genome-wide association study (GWAS). To identify additional prostate cancer susceptibility loci, we genotyped nine SNPs that were nominally associated with prostate cancer (P < 1 × 10(-4)) in our previous GWAS in three independent studies of prostate cancer in Japanese men (2,557 individuals with prostate cancer (cases) and 3,003 controls). In a meta-analysis of our previous GWAS and the replication studies, which included a total of 7,141 prostate cancer cases and 11,804 controls from a single ancestry group, three new loci reached genome-wide significance on chromosomes 11q12 (rs1938781; P = 1.10 × 10(-10); FAM111A-FAM111B), 10q26 (rs2252004; P = 1.98 × 10(-8)) and 3p11.2 (rs2055109; P = 3.94 × 10(-8)). We also found suggestive evidence of association at a previously reported prostate cancer susceptibility locus at 2p11 (rs2028898; P = 1.08 × 10(-7)). The identification of three new susceptibility loci should provide additional insight into the pathogenesis of prostate cancer and emphasizes the importance of conducting GWAS in diverse populations. 相似文献
75.
Y Okada X Sim MJ Go JY Wu D Gu F Takeuchi A Takahashi S Maeda T Tsunoda P Chen SC Lim TY Wong J Liu TL Young T Aung M Seielstad YY Teo YJ Kim JY Lee BG Han D Kang CH Chen FJ Tsai LC Chang SJ Fann H Mei DC Rao JE Hixson S Chen T Katsuya M Isono T Ogihara JC Chambers W Zhang JS Kooner;KidneyGen Consortium;CKDGen Consortium E Albrecht;GUGC consortium K Yamamoto M Kubo Y Nakamura N Kamatani N Kato J He YT Chen YS Cho ES Tai T Tanaka 《Nature genetics》2012,44(8):904-909
Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide association studies for kidney function-related traits, including 71,149 east Asian individuals from 18 studies in 11 population-, hospital- or family-based cohorts, conducted as part of the Asian Genetic Epidemiology Network (AGEN). Our meta-analysis identified 17 loci newly associated with kidney function-related traits, including the concentrations of blood urea nitrogen, uric acid and serum creatinine and estimated glomerular filtration rate based on serum creatinine levels (eGFRcrea) (P < 5.0 × 10(-8)). We further examined these loci with in silico replication in individuals of European ancestry from the KidneyGen, CKDGen and GUGC consortia, including a combined total of ~110,347 individuals. We identify pleiotropic associations among these loci with kidney function-related traits and risk of CKD. These findings provide new insights into the genetics of kidney function. 相似文献
76.
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits 总被引:1,自引:0,他引:1
Kim YJ Go MJ Hu C Hong CB Kim YK Lee JY Hwang JY Oh JH Kim DJ Kim NH Kim S Hong EJ Kim JH Min H Kim Y Zhang R Jia W Okada Y Takahashi A Kubo M Tanaka T Kamatani N Matsuda K;MAGIC consortium Park T Oh B Kimm K Kang D Shin C Cho NH Kim HL Han BG Lee JY Cho YS 《Nature genetics》2011,43(10):990-995
To identify the genetic bases for nine metabolic traits, we conducted a meta-analysis combining Korean genome-wide association results from the KARE project (n = 8,842) and the HEXA shared control study (n = 3,703). We verified the associations of the loci selected from the discovery meta-analysis in the replication stage (30,395 individuals from the BioBank Japan genome-wide association study and individuals comprising the Health2 and Shanghai Jiao Tong University Diabetes cohorts). We identified ten genome-wide significant signals newly associated with traits from an overall meta-analysis. The most compelling associations involved 12q24.11 (near MYL2) and 12q24.13 (in C12orf51) for high-density lipoprotein cholesterol, 2p21 (near SIX2-SIX3) for fasting plasma glucose, 19q13.33 (in RPS11) and 6q22.33 (in RSPO3) for renal traits, and 12q24.11 (near MYL2), 12q24.13 (in C12orf51 and near OAS1), 4q31.22 (in ZNF827) and 7q11.23 (near TBL2-BCL7B) for hepatic traits. These findings highlight previously unknown biological pathways for metabolic traits investigated in this study. 相似文献
77.
Study Group of Millennium Genome Project for Cancer Sakamoto H Yoshimura K Saeki N Katai H Shimoda T Matsuno Y Saito D Sugimura H Tanioka F Kato S Matsukura N Matsuda N Nakamura T Hyodo I Nishina T Yasui W Hirose H Hayashi M Toshiro E Ohnami S Sekine A Sato Y Totsuka H Ando M Takemura R Takahashi Y Ohdaira M Aoki K Honmyo I Chiku S Aoyagi K Sasaki H Ohnami S Yanagihara K Yoon KA Kook MC Lee YS Park SR Kim CG Choi IJ Yoshida T Nakamura Y Hirohashi S 《Nature genetics》2008,40(6):730-740
78.
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis 总被引:25,自引:0,他引:25
79.
R. Nishida K. H. Tan M. Serit N. H. Lajis A. M. Sukari S. Takahashi H. Fukami 《Cellular and molecular life sciences : CMLS》1988,44(6):534-536
Summary Two phenylpropanoid compounds, 2-allyl-4,5-dimethoxyphenol(II) and coniferyl alcohol(III), were characterized from body tissue of wild males of the Oriental fruit fly,Dacus dorsalis. These compounds accumulated in the rectal glands only when laboratory-reared males were fed with methyl eugenol. Compound II was released into the air during dusk, which coincides with the fly courtship period. Pheromonal and allomonal effects of the phenylpropanoids were examined. 相似文献
80.