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101.
Usher syndrome type IC is a rare, autosomal recessive sensorineural disorder caused by mutations in the USH1C gene, which encodes a PDZ-domain protein named harmonin. The Acadian-specific 216G-->A mutation in exon 3 and a variant 9-repeat VNTR allele (designated VNTR(t,t)) in intron 5 are in complete linkage disequilibrium. (The usual form of the allele is referred to as VNTR(t).) To gain insight into the structure, diversity, and evolution of the VNTR, we analyzed individuals from seven different populations, as well as nonhuman primates and rodents. The 2-, 3-, and 6-repeat VNTR alleles were the most common. Four novel alleles containing 1, 5, 7, and 10 repeats were detected with frequencies of 0.002, 0.029, 0.005, and 0.001, respectively. The USH1C VNTR region is highly conserved among primates, but not between primates and rodents. Five unrelated individuals had a 3-repeat VNTR(t,t) allele. Haplotype analysis indicates that the 9-repeat VNTR(t,t) and the 3-repeat VNTR(t,t) alleles arose independently. However, the 9-repeat VNTR(t,t) and 6-repeat VNTR(t) alleles shared the same haplotype, suggesting an expansion from 6(t) to 9(t,t). 相似文献
102.
103.
Derek W. Keats Donald H. Steele John M. Green Guy M. Martel 《Environmental Biology of Fishes》1993,37(2):173-180
Synopsis The size structure and diet of the Arctic shanny,Stichaeus punctatus, were studied at two sites, one at Nuvuk Islands in the Arctic, and one at Newman Sound, in eastern Newfoundland. The Newfoundland population showed peaks corresponding to 0+,1+, and an accumulation of older individuals, while the Nuvuk population was dominated by 2+ and 3+ combined, and individuals aged 6+ and older. Epiphytic, harpacticoid copepods were the most important food items for the smaller Arctic shanny, but the importance of harpacticoid copepods decreased with increasing fish size. Harpacticoid copepods are thus a link between the macro-algae and the young stages of the Arctic shanny. Since Arctic shanny are the main food used by black guillemots to feed chicks, these copepods are also an indirect link between benthic algal production and these seabirds. 相似文献
104.
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. 总被引:4,自引:1,他引:3 下载免费PDF全文
B. J. Keats N. Nouri M. Z. Pelias P. L. Deininger M. Litt 《American journal of human genetics》1994,54(4):681-686
Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899. 相似文献
105.
Molecular evolution modeled as a fractal Poisson process in agreement with mammalian sequence comparisons 总被引:1,自引:1,他引:0
The fractal doubly stochastic Poisson process (FDSPP) model of molecular
evolution, like other doubly stochastic Poisson models, agrees with the
high estimates for the index of dispersion found from sequence comparisons.
Unlike certain previous models, the FDSPP also predicts a positive
geometric correlation between the index of dispersion and the mean number
of substitutions. Such a relationship is statistically proven herein using
comparisons between 49 mammalian genes. There is no characteristic rate
associated with molecular evolution according to this model, but there is a
scaling relationship in rates according to a fractal dimension of
evolution. The FDSPP is a suitable replacement for the homogeneous Poisson
process in tests of the lineage dependence of rates and in estimating
confidence intervals for divergence times. As opposed to other fractal
models, this model can be interpreted in terms of Darwinian selection and
drift.
相似文献
106.
Trisomy 21: Association between reduced recombination and nondisjunction 总被引:27,自引:16,他引:11 下载免费PDF全文
S. L. Sherman N. Takaesu S. B. Freeman M. Grantham C. Phillips R. D. Blackston P. A. Jacobs A. E. Cockwell V. Freeman I. Uchida M. Mikkelsen D. M. Kurnit M. Buraczynska B. J. B. Keats T. J. Hassold 《American journal of human genetics》1991,49(3):608-620
To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value is significantly higher than the 75%-80% maternal nondisjunction rate typically observed in cytogenetic studies of trisomy 21 and illustrates the increased accuracy of the molecular approach. Using the maternally derived cases and probing at 19 polymorphic sites on chromosome 21, we created a genetic map that spans most of the long arm of chromosome 21. The map was significantly shorter than the normal female linkage map, indicating that absence of pairing and/or recombination contributes to nondisjunction in a substantial proportion of cases of trisomy 21. 相似文献
107.
Tiantian Jiang E. Keats Shwab Robbie M. Martin Richard W. Gerhold Benjamin M. Rosenthal Jitender P. Dubey Chunlei Su 《International journal for parasitology》2018,48(8):611-619
Toxoplasma gondii counts among the most consequential food-borne parasites, and although the parasite occurs in a wide range of wild and domesticated animals, farms may constitute a specific and important locus of transmission. If so, parasites in animals that inhabit agricultural habitats might be suspected of harbouring genetically distinct parasite types. To better understand habitat effects pertinent to this parasite’s transmission, we compiled and analysed existing genotypic data of 623 samples from animals across a proximity gradient from areas of human settlement to the wilderness in North America. To facilitate such analysis, T. gondii isolates were divided into three groups: (i) from farm-bound animals (with the most limited home ranges on farms); (ii) from free-roaming animals (with wider home ranges on or near farms); and (iii) from wildlife. In addition, parasite genotype distribution in different animal species was analysed. We observed no absolute limitation of any of five major genotypes to any one habitat; however, the frequency of four genotypes decreased across the gradient from the farm-bound group, to the free-roaming group, then the wildlife, whereas a fifth genotype increased along that gradient. Genetic diversity was greater in free-roaming than in farm-bound animals. The genotypic composition of parasites in wildlife differed from those in farm-bound and free-roaming animals. Furthermore, parasite genotypes differed among host species. We conclude that T. gondii genotype distributions are influenced by the spatial habitat and host species composition, and parasite diversity decreases towards areas of human settlement, elucidating facts which may influence transmission dynamics and zoonotic potential in this ubiquitous but regionally variable parasite. 相似文献
108.
Gradients of intertidal primary productivity around the coast of South Africa and their relationships with consumer biomass 总被引:6,自引:0,他引:6
Rodrigo H. Bustamante George M. Branch Sean Eekhout Bruce Robertson Peter Zoutendyk Michael Schleyer Arthur Dye Nick Hanekom Derek Keats Michelle Jurd Christopher McQuaid 《Oecologia》1995,102(2):189-201
The structure of rocky intertidal communities may be influenced by large-scale patterns of productivity. In this study we examine the in situ rates of production by intertidal epilithic microalgae (chlorophyll a production per unit area per month), intertidal nutrient concentrations (nitrates, nitrites, phosphates and silicates), and standing stocks of different functional-form groups of macroalgae around the South African coast, and their relationships to consumer biomass. Clear gradients of in situ intertidal primary production and nutrient concentrations were recorded around the South African coast, values being highest on the west coast, intermediate on the south and lowest on the east coast. Primary production by intertidal epilithic microalgae was correlated with nutrient availability and could also be related to nearshore phytoplankton production. The dominance patterns of different functional forms of macroalgae changed around the coast, with foliose algae prevalent on the west coast and coralline algae on the east coast. However, overall macroalgal standing stocks did not reflect the productivity gradient, being equally high on the east and west coasts, and low in the south. Positive relationships existed between the average biomass of intertidal intertebrate consumers (grazers and filter-feeders) and intertidal productivity, although only the grazers were directly connected to in situ production by epilithic intertidal microalgae. The maximum body size of a widely distributed limpet, Patella granularis, was also positively correlated with level of in situ primary production. The maximal values of biomass attained by intertidal filter-feeders were not related to intertidal primary production, and were relatively constant around the coast. At a local scale, filter-feeder biomass is known to be strongly influenced by wave action. This implies that the local-scale water movements over-ride any effects that large-scale gradients of primary production may have on filter-feeders. The large-scale gradient in intertidal productivity around the coast is thus strongly linked with grazer biomass and individual body size, but any effect it has on filter-feeder biomass seems subsidiary to the local effects of wave action. 相似文献
109.
We describe the upper portion of the bill sheath (rhinotheca) of the kākāpō (Strigops habroptilus) from three adult female specimens. The external buccal surface of the rhinotheca is deeply concave with a prominent palatal stop and hardened chevrons creating a ‘milling apparatus’ that the kākāpō uses to grind food. The palatal stop presents a working face of 40–50?mm2. The internal surface of the rhinotheca mirrors the overlying premaxilla and provides a distinct thickened abutment consistent with resistance against the increased workload of the mandibles (gnathotheca) due to the kākāpō’s fibrous diet and chewing style. Along the midline, the rhinotheca at the abutment is up to 5.6?mm thick, compared with as thin as 2.1?mm elsewhere on the midline. The closely related Nestor parrots have less developed palatal stops, chevrons and abutments on their rhinothecas consistent with their lower preference for fibrous plant material. The form of the rhinotheca agrees with the kākāpō’s feeding ecology as a generalist herbivore that grinds locally available fibrous material to assist digestion. 相似文献
110.
Rebecca F. Halperin John D. Carpten Zarko Manojlovic Jessica Aldrich Jonathan Keats Sara Byron Winnie S. Liang Megan Russell Daniel Enriquez Ana Claasen Irene Cherni Baffour Awuah Joseph Oppong Max S. Wicha Lisa A. Newman Evelyn Jaigge Seungchan Kim David W. Craig 《BMC medical genomics》2017,10(1):61