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排序方式: 共有56条查询结果,搜索用时 15 毫秒
51.
Steinthorsdottir V Thorleifsson G Reynisdottir I Benediktsson R Jonsdottir T Walters GB Styrkarsdottir U Gretarsdottir S Emilsson V Ghosh S Baker A Snorradottir S Bjarnason H Ng MC Hansen T Bagger Y Wilensky RL Reilly MP Adeyemo A Chen Y Zhou J Gudnason V Chen G Huang H Lashley K Doumatey A So WY Ma RC Andersen G Borch-Johnsen K Jorgensen T van Vliet-Ostaptchouk JV Hofker MH Wijmenga C Christiansen C Rader DJ Rotimi C Gurney M Chan JC Pedersen O Sigurdsson G Gulcher JR Thorsteinsdottir U Kong A 《Nature genetics》2007,39(6):770-775
52.
Helgason A Pálsson S Thorleifsson G Grant SF Emilsson V Gunnarsdottir S Adeyemo A Chen Y Chen G Reynisdottir I Benediktsson R Hinney A Hansen T Andersen G Borch-Johnsen K Jorgensen T Schäfer H Faruque M Doumatey A Zhou J Wilensky RL Reilly MP Rader DJ Bagger Y Christiansen C Sigurdsson G Hebebrand J Pedersen O Thorsteinsdottir U Gulcher JR Kong A Rotimi C Stefánsson K 《Nature genetics》2007,39(2):218-225
53.
Helgadottir A Thorleifsson G Magnusson KP Grétarsdottir S Steinthorsdottir V Manolescu A Jones GT Rinkel GJ Blankensteijn JD Ronkainen A Jääskeläinen JE Kyo Y Lenk GM Sakalihasan N Kostulas K Gottsäter A Flex A Stefansson H Hansen T Andersen G Weinsheimer S Borch-Johnsen K Jorgensen T Shah SH Quyyumi AA Granger CB Reilly MP Austin H Levey AI Vaccarino V Palsdottir E Walters GB Jonsdottir T Snorradottir S Magnusdottir D Gudmundsson G Ferrell RE Sveinbjornsdottir S Hernesniemi J Niemelä M Limet R 《Nature genetics》2008,40(2):217-224
Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD) and type 2 diabetes (T2D), respectively. We proceeded to further investigate the contributions of these variants to arterial diseases and T2D. Here we report that rs10757278-G is associated with, in addition to CAD, abdominal aortic aneurysm (AAA; odds ratio (OR) = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (OR = 1.29, P = 2.5 x 10(-6)), but not with T2D. This variant is the first to be described that affects the risk of AAA and intracranial aneurysm in many populations. The association of rs10811661-T to T2D replicates in our samples, but the variant does not associate with any of the five arterial diseases examined. These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases. 相似文献
54.
Bradfield JP Taal HR Timpson NJ Scherag A Lecoeur C Warrington NM Hypponen E Holst C Valcarcel B Thiering E Salem RM Schumacher FR Cousminer DL Sleiman PM Zhao J Berkowitz RI Vimaleswaran KS Jarick I Pennell CE Evans DM St Pourcain B Berry DJ Mook-Kanamori DO Hofman A Rivadeneira F Uitterlinden AG van Duijn CM van der Valk RJ de Jongste JC Postma DS Boomsma DI Gauderman WJ Hassanein MT Lindgren CM Mägi R Boreham CA Neville CE Moreno LA Elliott P Pouta A Hartikainen AL Li M Raitakari O 《Nature genetics》2012,44(5):526-531
Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of 14 studies consisting of 5,530 cases (≥95th percentile of body mass index (BMI)) and 8,318 controls (<50th percentile of BMI) of European ancestry. Taking forward the eight newly discovered signals yielding association with P < 5 × 10(-6) in nine independent data sets (2,818 cases and 4,083 controls), we observed two loci that yielded genome-wide significant combined P values near OLFM4 at 13q14 (rs9568856; P = 1.82 × 10(-9); odds ratio (OR) = 1.22) and within HOXB5 at 17q21 (rs9299; P = 3.54 × 10(-9); OR = 1.14). Both loci continued to show association when two extreme childhood obesity cohorts were included (2,214 cases and 2,674 controls). These two loci also yielded directionally consistent associations in a previous meta-analysis of adult BMI(1). 相似文献
55.
Sara M. Reekmans Thorsten Pflanzner Philip L. S. M. Gordts Simone Isbert Pascale Zimmermann Wim Annaert Sascha Weggen Anton J. M. Roebroek Claus U. Pietrzik 《Cellular and molecular life sciences : CMLS》2010,67(1):135-145
The proximal NPXY and distal NPXYXXL motifs in the intracellular domain of LRP1 play an important role in regulation of the
function of the receptor. The impact of single and double inactivating knock-in mutations of these motifs on receptor maturation,
cell surface expression, and ligand internalization was analyzed in mutant and control wild-type mice and MEFs. Single inactivation
of the proximal NPXY or in combination with inactivation of the distal NPXYXXL motif are both shown to be associated with
an impaired maturation and premature proteasomal degradation of full-length LRP1. Therefore, only a small mature LRP1 pool
is able to reach the cell surface resulting indirectly in severe impairment of ligand internalization. Single inactivation
of the NPXYXXL motif revealed normal maturation, but direct impairment of ligand internalization. In conclusion, the proximal
NPXY motif proves to be essential for early steps in the LRP1 biosynthesis, whereas NPXYXXL appears rather relevant for internalization. 相似文献
56.
Wedekind C 《Nature genetics》2002,31(3):237; author reply 237