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排序方式: 共有760条查询结果,搜索用时 218 毫秒
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Mirjam Frischknecht Vidhya Jagannathan Philippe Plattet Markus Neuditschko Heidi Signer-Hasler Iris Bachmann Alicja Pacholewska Cord Dr?gemüller Elisabeth Dietschi Christine Flury Stefan Rieder Tosso Leeb 《PloS one》2015,10(10)
The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses. 相似文献
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Studies have been made on the activity of two mitochondrial enzymes, Mg2+ ATPase (E.C.3.6.1.3.) and cytochrome c-oxidase (E.C.I.9.3.2.) in microsporocytes and somatic cells of anther in larch.
The material for study were homogeneous fractions of microsporocytes from 15 stages of meiosis and the attendant anther somatic
cells. The results have demonstrated that cells undergoing meiosis exhibit considerable mitochondrial metabolic activity.
It is characterized by considerable variations in the activity level of both enzymes studied. The level and dynamics of variations
of Mg2+-ATPase and cytochrome c-oxidase activity in microsporocytes are clearly different from those in the anther somatic cells.
The cytochrome c-oxidase activity in microsporocytes throughout microsporogenesis is higher compared with that in the anther
wall cells, whereas the Mg2+-ATPase activity in microsporocytes averagesca. one half that in the anther somatic cells
The dynamics of activity variations of the enzymes under study suggests enhanced mitochondrial metabolism in the period of
middle diplotene and young dyad. This result supports the thesis following from our earlier studies that the middle diplotene
and young dyad constitute specific metabolic switches in microsporogenesis in larch. 相似文献
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Felicja Meisel-Mikoajczyk Alicja Rokosz Anna Sawicka-Grzelak J. Zuijderduijn Ilse Beckmann Juliette Paelinck 《Journal of applied microbiology》1984,57(3):405-411
Phenol/water-extracted lipopolysaccharide and a fraction HM, extracted with acetate buffer pH 2.0, from Bacteroides fragilis strain 62/73 are antigenically different as shown by immunodiffusion, passive haemagglutination, haemagglutination inhibition and preliminary chemical investigations. Biological activity, assessed with the local Shwartzmann reaction, was demonstrated for the lipopolysaccharide whereas antigen HM was almost inactive in this test. HM is immunogenic in rabbits. Antibodies against HM were detected in seven out of ten sera of healthy humans. 相似文献
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Summary Familial occurrence of 1/21 translocation in connection with trisomy 21 was described. The possibilities of inheritance of further chromosome rearrangements arising during the gametogenesis of persons with this translocation were considered. 相似文献
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Ulrich Dobramysl Iris Katharina Jarsch Yoshiko Inoue Hanae Shimo Benjamin Richier Jonathan R. Gadsby Julia Mason Alicja Szaapak Pantelis Savvas Ioannou Guilherme Pereira Correia Astrid Walrant Richard Butler Edouard Hannezo Benjamin D. Simons Jennifer L. Gallop 《The Journal of cell biology》2021,220(4)
Assemblies of actin and its regulators underlie the dynamic morphology of all eukaryotic cells. To understand how actin regulatory proteins work together to generate actin-rich structures such as filopodia, we analyzed the localization of diverse actin regulators within filopodia in Drosophila embryos and in a complementary in vitro system of filopodia-like structures (FLSs). We found that the composition of the regulatory protein complex where actin is incorporated (the filopodial tip complex) is remarkably heterogeneous both in vivo and in vitro. Our data reveal that different pairs of proteins correlate with each other and with actin bundle length, suggesting the presence of functional subcomplexes. This is consistent with a theoretical framework where three or more redundant subcomplexes join the tip complex stochastically, with any two being sufficient to drive filopodia formation. We provide an explanation for the observed heterogeneity and suggest that a mechanism based on multiple components allows stereotypical filopodial dynamics to arise from diverse upstream signaling pathways. 相似文献