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11.
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 总被引:14,自引:0,他引:14
E M Stone A J Lotery F L Munier E Héon B Piguet R H Guymer K Vandenburgh P Cousin D Nishimura R E Swiderski G Silvestri D A Mackey G S Hageman A C Bird V C Sheffield D F Schorderet 《Nature genetics》1999,22(2):199-202
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world. Just as in ML and DHRD, the early hallmark of AMD is the presence of drusen. Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied. This change was not present in 477 control individuals or in 494 patients with age-related macular degeneration. Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration. 相似文献
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N Matsunami B Smith L Ballard M W Lensch M Robertson H Albertsen C O Hanemann H W Müller T D Bird R White 《Nature genetics》1992,1(3):176-179
Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2. A related disorder in the mouse, trembler (Tr), maps to mouse chromosome 11 which has syntenic homology to human chromosome 17p. Recently, the peripheral myelin protein-22 (pmp-22) gene was identified as the likely Tr locus. We have constructed a partial yeast artificial chromosome contig spanning the CMT1A gene region and mapped the PMP-22 gene to the duplicated region. These observations further implicate PMP-22 as a candidate gene for CMT1A, and suggest that over-expression of this gene may be one mechanism that produces the CMT1A phenotype. 相似文献
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Zusammenfassung Samen des LippenblütlersPhlomis fruticosa (Jerusalem Salbei) enthalten ein wirksames Anti-A- und -B-Agglutinin. 相似文献
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G. W. G. Bird 《Cellular and molecular life sciences : CMLS》1965,21(1):5-6
Zusammenfassung Agglutinine aus Samen derAreca catechu Linn reagieren mit (1) dem T-Antigen und (2) einem Rezeptor der Erythrocytenoberfläche, der nach Behandlung mit Papain in Erscheinung tritt. 相似文献
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D. B. Gower S. Bird P. Sharma F. R. House 《Cellular and molecular life sciences : CMLS》1985,41(9):1134-1136
Summary Axillary 5-androst-16-en-3-one (5-androstenone) levels were found to be significantly higher in men than in women but do not vary between left and right axillae, are not related to age, handedness or degree of hirsutism (in women) nor to anosmia to this steroid. In men (but not in women), levels are related linearly to axillary cholesterol concentrations but not to squalene. Olfactory thresholds for 5-androstenone varied widely, the lowest recorded being 0.2 ppb, but there was no difference in thresholds between men and women. Women (70%) found the smell repellant but anosmia did not differ greatly between men and women (9–20%). Anosmia to the smell of 5-androst-16-en-3-ol was most marked in women (90%) rather than in men (45%). Axillary 5-androstenone values were generally consistent with the musky or strong smells of male axillary extracts, compared with the sweet smell of those from female subjects.Supported by the Herbert Dunhill Trust. 相似文献