全文获取类型
收费全文 | 155篇 |
免费 | 23篇 |
出版年
2023年 | 3篇 |
2021年 | 1篇 |
2020年 | 6篇 |
2019年 | 2篇 |
2018年 | 1篇 |
2017年 | 2篇 |
2016年 | 4篇 |
2015年 | 3篇 |
2014年 | 7篇 |
2013年 | 3篇 |
2012年 | 13篇 |
2011年 | 10篇 |
2010年 | 5篇 |
2009年 | 5篇 |
2008年 | 7篇 |
2007年 | 8篇 |
2006年 | 8篇 |
2005年 | 16篇 |
2004年 | 15篇 |
2003年 | 9篇 |
2002年 | 9篇 |
2001年 | 6篇 |
2000年 | 6篇 |
1999年 | 8篇 |
1998年 | 2篇 |
1997年 | 3篇 |
1995年 | 1篇 |
1994年 | 3篇 |
1993年 | 1篇 |
1991年 | 1篇 |
1990年 | 1篇 |
1989年 | 2篇 |
1986年 | 2篇 |
1985年 | 2篇 |
1976年 | 1篇 |
1969年 | 1篇 |
1968年 | 1篇 |
排序方式: 共有178条查询结果,搜索用时 281 毫秒
51.
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase 总被引:19,自引:0,他引:19 下载免费PDF全文
Irrthum A Karkkainen MJ Devriendt K Alitalo K Vikkula M 《American journal of human genetics》2000,67(2):295-301
Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of VEGFR3 in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a VEGFR3 intragenic polymorphism, and we describe an A-->G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35. 相似文献
52.
Résumé Une forte pression de sélection (DL 90) est exercée pendant 10 générations consécutives sur une lignée dePlutella maculipennis
Curt., à l'aide du complexe cristaux-spores d'unBacillus thuringiensis (standard E 61). Les survivants de chaque génération sont soumis à la pression sélective au début du 4e et dernier age larvaire, en pulvérisant la préparation bactérienne en suspension aqueuse sur l'aliment végétal. A la 11e génération, comparativement à la lignée de référence, aucune différence significative de sensibilité n'est constatée entre
les deux lignées.
Summary A strain ofPlutella maculipennis was held under high selection pressure (LD 90) byBacillus thuringiensis spore-crystal complex (standard E 61) for 10 generations. The survivors of each generation were subjected to selective pressure by feeding the fourth-instar larvae on cabbage leaves sprayed withBacillus thuringiensis in aqueous suspension. At the 11th generation, no significant difference of susceptibility was observed when compared to the control strain.相似文献
53.
Koenraad Kortmulder 《Acta biotheoretica》1998,46(1):53-63
Displacement acts, once a hot topic in ethology, but wrapped in silence for two decades since, have recently been suggested to indicate and relax social tension (Maestripieri et al., 1992; Wiepkema, 1987). The first of these contentions seems to be in contradiction with some of the classical ethological studies of displacement behaviour, in particular those supporting the disinhibition hypothesis, since the latter would not predict any positive correlation between amount of tension (i.c. intensity of the conflict) and the occurrence of displacement acts.A critical examination of these studies reveals that a positive correlation of the sort has been found, but that proponents of the disinhibition hypothesis tried to explain it in terms of their own model, rather than taking it at its face value. (The reason for this is that they viewed it as pleading for the surplus hypothesis which they rejected). It can be shown that at least some of their explanations are grounded on assumptions which are arbitrary. Also, the disinhibition hypothesis does not account for the occurrence of displacement behaviour in contexts with tension but without conflict.This discussion leads to a new interpretation of displacement behaviour, in which tension is the direct cause, whether generated by conflict or otherwise, and relaxation is brought about by a breaking of the cognitive symmetry between actors. It is indicated how this interpretation may be tested with experiments. 相似文献
54.
Martin A. Mensah Matthew S. Hestand Maarten H. D. Larmuseau Mala Isrie Nancy Vanderheyden Matthias Declercq Erika L. Souche Jeroen Van Houdt Radka Stoeva Hilde Van Esch Koen Devriendt Thierry Voet Ronny Decorte Peter N. Robinson Joris R. Vermeesch 《PLoS genetics》2014,10(11)
The human sex chromosomes differ in sequence, except for the pseudoautosomal regions (PAR) at the terminus of the short and the long arms, denoted as PAR1 and PAR2. The boundary between PAR1 and the unique X and Y sequences was established during the divergence of the great apes. During a copy number variation screen, we noted a paternally inherited chromosome X duplication in 15 independent families. Subsequent genomic analysis demonstrated that an insertional translocation of X chromosomal sequence into theMa Y chromosome generates an extended PAR. The insertion is generated by non-allelic homologous recombination between a 548 bp LTR6B repeat within the Y chromosome PAR1 and a second LTR6B repeat located 105 kb from the PAR boundary on the X chromosome. The identification of the reciprocal deletion on the X chromosome in one family and the occurrence of the variant in different chromosome Y haplogroups demonstrate this is a recurrent genomic rearrangement in the human population. This finding represents a novel mechanism shaping sex chromosomal evolution. 相似文献
55.
Joke Vandewalle Marijke Bauters Hilde Van Esch Stefanie Belet Jelle Verbeeck Nathalie Fieremans Maureen Holvoet Jodie Vento Ana Spreiz Dieter Kotzot Edda Haberlandt Jill Rosenfeld Joris Andrieux Bruno Delobel Marie-Bertille Dehouck Koen Devriendt Jean-Pierre Fryns Peter Marynen Amy Goldstein Guy Froyen 《Human genetics》2013,132(10):1177-1185
Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic form of ID due to the loss of UBE2A. Here, we report on overlapping microdeletions at Xq24 that do not include UBE2A or affect its expression, in patients with non-syndromic ID plus some additional features from three unrelated families. The smallest region of overlap, confirmed by junction sequencing, harbors two members of the mitochondrial solute carrier family 25, SLC25A5 and SLC25A43. However, identification of an intragenic microdeletion including SLC25A43 but not SLC25A5 in a healthy boy excluded a role for SLC25A43 in cognition. Therefore, our findings point to SLC25A5 as a novel gene for non-syndromic ID. This highly conserved gene is expressed ubiquitously with high levels in cortex and hippocampus, and a presumed role in mitochondrial exchange of ADP/ATP. Our data indicate that SLC25A5 is involved in memory formation or establishment, which could add mitochondrial processes to the wide array of pathways that regulate normal cognitive functions. 相似文献
56.
Dries Vandamme Imogen Foubert Koenraad Muylaert 《Biotechnology and bioengineering》2011,108(10):2320-2329
Although microalgae are considered as a promising feedstock for biofuels, the energy efficiency of the production process needs to be significantly improved. Due to their small size and low concentration in the culture medium, cost‐efficient harvesting of microalgae is a major challenge. In this study, the use of electro‐coagulation–flocculation (ECF) as a method for harvesting a freshwater (Chlorella vulgaris) and a marine (Phaeodactylum tricornutum) microalgal species is evaluated. ECF was shown to be more efficient using an aluminum anode than using an iron anode. Furthermore, it could be concluded that the efficiency of the ECF process can be substantially improved by reducing the initial pH and by increasing the turbulence in the microalgal suspension. Although higher current densities resulted in a more rapid flocculation of the microalgal suspension, power consumption, expressed per kg of microalgae harvested, and release of aluminum were lower when a lower current density was used. The aluminum content of the harvested microalgal biomass was less than 1% while the aluminum concentration in the process water was below 2 mg L−1. Under optimal conditions, power consumption of the ECF process was around 2 kWh kg−1 of microalgal biomass harvested for Chlorella vulgaris and ca. 0.3 kWh kg−1 for Phaeodactylum tricornutum. Compared to centrifugation, ECF is thus more energy efficient. Because of the lower power consumption of ECF in seawater, ECF is a particularly attractive method for harvesting marine microalgae. Biotechnol. Bioeng. 2011;108: 2320–2329. © 2011 Wiley Periodicals, Inc. 相似文献
57.
Hilde Van Esch Rita Colnaghi Kathleen Freson Petro Starokadomskyy Andreas Zankl Liesbeth Backx Iga Abramowicz Emily Outwin Luis Rohena Claire Faulkner Gary M. Leong Ruth A. Newbury-Ecob Rachel C. Challis Katrin Õunap Jacques Jaeken Eve Seuntjens Koen Devriendt Ezra Burstein Mark O’Driscoll 《American journal of human genetics》2019,104(5):957-967
58.
59.
Eline Ryckebosch Sara Paulina Cuéllar Bermúdez Romina Termote-Verhalle Charlotte Bruneel Koenraad Muylaert Roberto Parra-Saldivar Imogen Foubert 《Journal of applied phycology》2014,26(3):1501-1510
Microalgae oils are considered to be promising alternative sources of omega-3 LC-PUFA. The aim of this work was therefore to evaluate different solvent (mixtures), currently accepted for use in the food industry, for the extraction of lipids from Nannochloropsis gaditana, an omega-3 LC-PUFA-rich microalga. Importantly, not only the total lipid yield but also the lipid class, eicosapentaenoic acid, carotenoid, and sterol yield were investigated. It was shown that the highest yield for each of the components was obtained with dichloromethane/ethanol (1:1). All extracts except the one obtained with dichloromethane/ethanol (1:1) were enriched in neutral lipids and depleted in polar lipids, when compared to the total lipid extract (chloroform/methanol 1:1). Hexane/isopropanol (3:2) seems to be the second best option: it has the advantage of performing better at criteria such as toxicity, but has the disadvantage that almost half of the interesting oil cannot be recovered. 相似文献
60.
Christof J Majoor Marianne A van de Pol Pieter Willem Kamphuisen Joost CM Meijers Richard Molenkamp Katja C Wolthers Tom van der Poll Rienk Nieuwland Sebastian L Johnston Peter J Sterk Elisabeth HD Bel Rene Lutter Koenraad F van der Sluijs 《Respiratory research》2014,15(1):14