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71.
72.
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 总被引:23,自引:0,他引:23
C C Chipev B P Korge N Markova S J Bale J J DiGiovanna J G Compton P M Steinert 《Cell》1992,70(5):821-828
Epidermolytic hyperkeratosis is an autosomal dominant disorder affecting the structural integrity of the suprabasal layers of human epidermis. We have recently documented in one family linkage of the disease phenotype to the cluster of type II keratins. We have now identified a leucine----proline amino acid substitution in the conserved H1 subdomain of keratin 1 that is present only in affected family members. Using a quantitative assay and electron microscopy with synthetic peptides, we show that, whereas the wild-type H1 peptide rapidly disassembles preformed keratin filaments in vitro, the mutant peptide does this far less efficiently. Therefore the mutation in keratin 1 is likely to cause defective keratin filaments and hence a defective cytoskeleton in the epidermal cells in vivo. 相似文献
73.
Dimitry Y. Sorokin Tatiana V. Khijniak Nadezhda A. Kostrikina Alexander G. Elcheninov Stepan V. Toshchakov Nicole J. Bale Jaap S. Sinninghe Damsté Ilya V. Kublanov 《Systematic and applied microbiology》2018,41(4):355-362
Six strains of extremely halophilic and alkaliphilic euryarchaea were enriched and isolated in pure culture from surface brines and sediments of hypersaline alkaline lakes in various geographical locations with various forms of insoluble cellulose as growth substrate. The cells are mostly flat motile rods with a thin monolayer cell wall while growing on cellobiose. In contrast, the cells growing with cellulose are mostly nonmotile cocci covered with a thick external EPS layer. The isolates, designated AArcel, are obligate aerobic heterotrophs with a narrow substrate spectrum. All strains can use insoluble celluloses, cellobiose, a few soluble glucans and xylan as their carbon and energy source. They are extreme halophiles, growing within the range from 2.5 to 4.8 M total Na+ (optimum at 4 M) and obligate alkaliphiles, with the pH range for growth from 7.5 to 9.9 (optimum at 8.5–9). The core archaeal lipids of strain AArcel5T were dominated by C20–C20 dialkyl glycerol ether (DGE) (i.e. archaeol) and C20–C25 DGE in nearly equal proportion. The 16S rRNA gene analysis indicated that all six isolates belong to a single genomic species mostly related to the genera Saliphagus-Natribaculum-Halovarius. Taking together a substantial phenotypic difference of the new isolates from the closest relatives and the phylogenetic distance, it is concluded that the AArcel group represents a novel genus-level branch within the family Natrialbaceae for which the name Natronobiforma cellulositropha gen. nov., sp. nov. is proposed with AArcel5T as the type strain (JCM 31939T = UNIQEM U972T). 相似文献
74.
Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. 总被引:3,自引:0,他引:3
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R Wartenfeld E Golomb G Katz S J Bale B Goldman M Pras D L Kastner E Pras 《American journal of human genetics》1997,60(3):617-624
Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is located on the short arm of chromosome 2 and encodes a renal/intestinal transporter for cystine and the dibasic amino acids. In Israel cystinuria is especially common among Jews of Libyan origin. After excluding SLC3A1 as the disease-causing gene in Libyan Jewish patients, we performed a genomewide search that shows that the Libyan Jewish cystinuria gene maps to the long arm of chromosome 19. Significant linkage was obtained for seven chromosome 19 markers. A maximal LOD score of 9.22 was obtained with the marker D19S882. Multipoint data and recombination analysis placed the gene in an 8-cM interval between the markers D19S409 and D19S208. Significant linkage disequilibrium was observed for alleles of four markers, and a specific haplotype comprising the markers D19S225, D19S208, D19S220, and D19S422 was found in 11 of 17 carrier chromosomes, versus 1 of 58 Libyan Jewish noncarrier chromosomes. 相似文献
75.
76.
Lijiang Ma Yavuz Bayram Heather M. McLaughlin Megan T. Cho Alyson Krokosky Clesson E. Turner Kristin Lindstrom Caleb P. Bupp Katey Mayberry Weiyi Mu Joann Bodurtha Veronique Weinstein Neda Zadeh Wendy Alcaraz Zöe Powis Yunru Shao Daryl A. Scott Andrea M. Lewis Janson J. White Shalani N. Jhangiani Elif Yilmaz Gulec Seema R. Lalani James R. Lupski Kyle Retterer Rhonda E. Schnur Ingrid M. Wentzensen Sherri Bale Wendy K. Chung 《Human genetics》2016,135(12):1399-1409
77.
78.
Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3 总被引:6,自引:0,他引:6
S Hosoe H Brauch F Latif G Glenn L Daniel S Bale P Choyke M Gorin E Oldfield A Berman 《Genomics》1990,8(4):634-640
We studied 25 families with von Hippel-Lindau disease (VHL) to locate VHL more precisely on chromosome 3. We found that VHL was linked to RAF1, confirming previous observations, and to two polymorphic DNA markers, D3S18 and D3S191. Multipoint linkage analysis indicated that the most likely location for VHL was in the interval between RAF1 and D3S18. D3S18 was located at 3p26. Genetic heterogeneity was not detected in this panel of von Hippel-Lindau disease families. The polymorphic markers RAF1, D3S18, and D3S191 should be useful in identifying asymptomatic gene carriers in VHL families and in guiding efforts at gene isolation. 相似文献
79.
This case report addresses the occurrence of Brucellosis and its effect on the cattle in developing countries. Three Zebu bulls () are presented and the clinical and pathologic signs are described. Conception rates declined following an abortion storm in one herd and without prior abortions in another herd. Semen collected by electro-ejaculation was found to be azoospermic or with very few spermatozoa. was isolated from seminal vesicles, testes and epididymides. Organs affected and showing microscopic lesions were testes, epididymides and seminal vesicles. The latter were not consistently affected. None of the bulls showed impairment of libido or breeding capacity. 相似文献
80.
A radiation exposure of 1500 R to the Walker 256 rat tumor was found to sensitize this tumor to the effect of a sublethal dose of endotoxin (Sarratia marcescens lipopolysaccharide) given 2 days later so that complete or almost complete destruction of the tumor resulted. Histological. study showed rapidly developing massive necrosis of tumor tissue. Tracer experiments with 131I-labeled antibody to rat fibrin indicated an absence of blood circulation in the treated tumor. These results suggest that the lesion may be secondary to blood coagulation occurring in the vascular bed of the tumor. Apparently identical lesions were also produced by epinephrine and ellagic acid, alone or in combination. It is known that even untreated tumors are often the site of fibrin deposition. Presumably radiation, by injury to tumor cells, enhances the release of coagulation-producing substances into the vascular bed. It is postulated that the effect of subsequent treatment with the drugs listed above is produced by circulatory stasis induced in the tumor. This may be associated with Hageman factor activation or release of platelet factor 3. 相似文献