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41.
Duckweeds as crop plants Members of the plant family Lemnaceae (duckweeds) are not only interesting because they represent the smallest flowering plants; they possess also the fastest rates of producing biomass. As aquatic plants, duckweed production is not in competition with other agricultural crops that require fertile land while the cultivation of duckweeds does not contribute to further eutrophication of surface water. Instead, they can be cultivated on municipal or agricultural waste water and remove the nutrients during their propagation and growth. Duckweeds can thus be used for cleaning of waste water and the resulting biomass can be valuable starting material for animal feeds and the production of biofuels. Research focusing on these goals has begun to transfer from research laboratories to pilot plants in different parts of the world, e.g. in New Jersey and North Carolina, USA; Chengdu, P. R. China; and Armidale, Australia. 相似文献
42.
43.
The classic myotonic dystrophy, Steinert’s disease (DM1) was first described in 1909, and the second type, Ricker’s disease (DM2), in 1994. In 1992 the disease-causing mutation in DM1 was identified as a CTG repeat in the DMPK gene on chromosome 19q, and in 2001 the DM2 mutation was identified as a CCTG repeat expansion in the ZNF9 gene on chromosome 3q. Multisystemic symptoms of the diseases affect skeletal muscle, brain, eye, heart, and the endocrine system. The pathogenesis of both forms seems to be based on a gain-of-function RNA mechanism and on alterations in RNA metabolism and spliceopathy. Our review focuses on clinical features, diagnostic techniques, and new aspects of molecular pathogenesis and therapy. 相似文献
44.
PD Dr. R.C. Betz 《Medizinische Genetik》2009,21(4):505-510
The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous forms of hairlessness or hair loss. Clinical classification of the isolated alopecias is based on the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Since the identification of the keratin gene KRT86 as a cause of the so-called monilethrix in 1997, mutations in nine other genes have been identified for various isolated alopecias. These include other keratin genes for monilethrix (KRT81 and KRT83), the hairless gene for atrichia congenita/papular atrichia, the corneodesmosin gene for the autosomal dominant form of hypotrichosis simplex, and the genes desmoglein 4, lipase H, and the G-protein-coupled receptor P2RY5 (LPAR6) for the autosomal recessive forms of hypotrichosis. Molecular genetic and pathophysiological studies of these rare disorders of hair development have contributed significantly to our understanding of the basic mechanisms of hair loss as well as the physiological mechanisms of hair growth. 相似文献
45.
AC Martin IA Laing G Zhang S Brennan K Winfield PD Sly SM Stick J Goldblatt PN LeSouef 《Respiratory research》2005,6(1):1-4
Early acquisition of Pseudomonas aeruginosa is associated with a poorer prognosis in patients with cystic fibrosis. We investigated whether polymorphisms in CD14, the lipopolysaccharide receptor, increase the risk of early infection. Forty-five children with cystic fibrosis were investigated with annual bronchoalveolar lavage (BAL) and plasma sCD14 levels. Plasma sCD14 levels were significantly lower in children from whom P.aeruginosa was subsequently isolated (492.75 μg/ml vs. 1339.43 μg/ml, p = 0.018). Those with the CD14 -159CC genotype had a significantly increased risk of early infection with P.aeruginosa suggesting that CD14 C-159T plays a role in determining the risk of early infection with P.aeruginosa. 相似文献
46.
Mexican spruce (Picea mexicana Martínez), an endangered species of the highest sky islands in México's Sierra Madre Oriental and Sierra Madre Occidental, is threatened by fire, grazing, and global warming. Its conservation depends on whether it also is threatened by inbreeding and loss of genic diversity. We used 18 isozyme markers in 12 enzyme systems to assay genic diversity, characterize the mating system, and test for recent bottlenecks in three known populations. Unbiased, expected heterozygosity (H
e
) averaged 0.125. Despite a separation of 676 km between populations in the Sierra Madre Oriental and the Sierra Madre Occidental, Wright's F
ST
, the proportion of total genic diversity among populations, was only 6.9%. Nei's genetic distance was 0.001 between the populations in the Sierra Madre Oriental and more than an order of magnitude greater, 0.019, between the Sierra Madre Oriental and Sierra Madre Occidental. However, both values point to relatively recent divergence. Mating systems were predominantly outcrossing, but with significant selfing. Multilocus estimates of selfing varied from 19% to 41%, and the means of single-locus estimates were higher, suggesting that additional inbreeding occurred by mating among relatives. Despite significant inbreeding, observed heterozygosity was as high as or higher than H
e
; Wright's fixation index, F
IS
, was –0.107. Under the observed level of selfing, positive values of F
IS
were expected. Therefore, selection against inbreds and homozygotes must be intense. Cornuet-Luikart tests indicate recent bottlenecks in at least two of the three populations. The results suggest that Mexican spruce is a genetically viable species, and threats are primarily environmental. 相似文献
47.
PD Dr. M.J. Koch 《Medizinische Genetik》2007,19(4):392-398
Dental development takes place in stages over a long period of time. From the 6ths embryonal week, when the dental lamina develops, tooth number and shape are formed, followed by the production of dental hard tissues. Genetic dental developmental defects are not rare. Mostly these defects affect the tooth number, predominantly resulting in a decrease tooth number (hypodontia) which can occur isolated or as a finding in genetic syndromes such as Rieger syndrome, Witkop syndrome or several ectodermal dysplasias. Genetic defects of dental hard tissues are less frequent, different types of isolated enamel defects (amelogenesis imperfecta) are known. Dentinogenesis imperfecta or other dentinal defects are either caused by different mutations of the DSPP gene or a part of osteogenesis imperfecta. 相似文献
48.
PD Dr. P.N. Robinson M. Arslan-Kirchner P. Gehle J. Schmidtke Prof. Dr. Y. von Kodolitsch 《Medizinische Genetik》2011,23(3):407-420
Marfan syndrome (MFS) is an autosomal dominant, pleiotropic disease of the connective tissue with a prevalence of about 1 in 5000 persons. MFS is characterized by manifestations in the cardiovascular system, eye, skeleton, lung, skin, and dura mater that show a high degree of intra- and interfamilial variability. Many manifestations develop during or shortly before puberty; severe complications rarely occur before adulthood. Many patients with MFS display a so-called marfanoid habitus with tall stature, dolichostenomelia (long, narrow extremities), dolichocephaly (disproportionately long and narrow head), as well as other skeletal abnormalities such as scoliosis and pes planus. Scoliosis occurs in approximately 60% of those affected, pectus deformities in up to two thirds. Ectopia lentis is seen in many patients with MFS and is almost always bilateral. MFS is characterized by a high risk for complications such as severe scoliosis or pectus deformities, spontaneous pneumothorax, retinal detachment, or glaucoma secondary to lens luxation. The most severe complications occur in the cardiovascular system, including in particular acute dissection of the ascending aorta, which generally follows a long period of progressive aortic dilatation. Before the introduction of modern treatment modalities, the average life expectancy of persons with MFS was estimated to be 32 years. Today, with medical care in multidisciplinary centers, an average life expectancy of over 60 years can be achieved. This article offers a review of established and novel concepts for the diagnosis and treatment of MFS and other hereditary diseases of the aorta. 相似文献
49.
Familial clustering of colorectal cancer (CRC) and early disease onset are indicators of an inherited tumour syndrome. Monogenic dispositions account for 3–5% of all CRC cases and are subdivided into hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome) and various gastrointestinal polyposis syndromes. Many of these syndromes are characterised by a broad spectrum of extracolonic tumours. Early detection and accurate classification are essential in providing effective surveillance and treatment. Initial diagnosis is based on endoscopic and histological findings as well as on the presence of extracolonic manifestations and family history. Molecular genetic examination is important for the differential diagnosis, evaluation of recurrence risk, and predictive testing of asymptomatic at risk individuals; it is performed according to largely standardised algorithms. Diagnostic difficulties are common among the hamartomatous polyposes due to their broad phenotypic overlap and frequent uncertainties in histological evaluation, as well as among patients with few adenomas. Risk-adapted surveillance guidelines have been established for HNPCC and for the more frequently observed polyposis syndromes. Beyond established tumour syndromes, familial clustering of CRC (which is often of late onset) or the occurrence of few adenomas is likely to be based upon a multifactorial (complex) etiology. Although identification of the underlying genetic risk factors and biological pathways is still in the early stages, rapid progress is being made due to methodical developments such as genome-wide association studies and CNV analysis. 相似文献
50.
Genetic diversity and seed production in Santa Lucia fir (Abies bracteata),
a relict of the Miocene Broadleaved Evergreen Forest 总被引:1,自引:0,他引:1
Santa Lucia fir (Abies bracteata), is a unique fir, the sole member of the subgenus Pseudotorreya. It is a relict of the Miocene broadleaved evergreen sclerophyll forest, and is now restricted to a highly fragmented range in the Santa Lucia Mountains of central coastal California. Expected heterozygosity for 30 isozyme loci in 18 enzyme systems, averaged over six populations that spanned the species’ north–south range, was only 0.036. Despite a fragmented range and isolated populations, differentiation (F
ST) was only 0.080 for mature trees, and the number of migrants per generation (Nm) was 2.88 or 3.83, depending on the method of estimation. F
ST for embryos was lower, 0.025, and Nm correspondingly higher, 9.75. Nei’s genetic distances were small and unrelated to geographic distances between populations. The proportion of full seeds per cone was only 0.082–0.488, depending on population, which suggests a high incidence of selfing followed by embryo abortion. However, the level of accumulated inbreeding, F
IS, in mature trees was low, only 0.049. By contrast, F
IS for embryos was 0.388, which indicates a high proportion of selfed progeny, in agreement with the low seed yields. The difference in inbreeding coefficients between seed trees and their progeny suggest that most inbreds are eliminated before maturity and, therefore, seed production, already low, overestimates the true potential for regeneration of these populations. These results have implications for conservation. 相似文献