全文获取类型
收费全文 | 1484篇 |
免费 | 115篇 |
出版年
2023年 | 17篇 |
2022年 | 38篇 |
2021年 | 56篇 |
2020年 | 39篇 |
2019年 | 62篇 |
2018年 | 62篇 |
2017年 | 63篇 |
2016年 | 56篇 |
2015年 | 99篇 |
2014年 | 92篇 |
2013年 | 109篇 |
2012年 | 119篇 |
2011年 | 116篇 |
2010年 | 81篇 |
2009年 | 46篇 |
2008年 | 75篇 |
2007年 | 63篇 |
2006年 | 57篇 |
2005年 | 54篇 |
2004年 | 40篇 |
2003年 | 31篇 |
2002年 | 33篇 |
2001年 | 16篇 |
2000年 | 22篇 |
1999年 | 15篇 |
1998年 | 6篇 |
1997年 | 8篇 |
1996年 | 7篇 |
1995年 | 14篇 |
1994年 | 4篇 |
1993年 | 4篇 |
1992年 | 15篇 |
1991年 | 13篇 |
1990年 | 12篇 |
1989年 | 11篇 |
1988年 | 7篇 |
1987年 | 4篇 |
1986年 | 2篇 |
1985年 | 3篇 |
1984年 | 4篇 |
1983年 | 2篇 |
1982年 | 2篇 |
1981年 | 2篇 |
1979年 | 4篇 |
1976年 | 3篇 |
1975年 | 2篇 |
1973年 | 2篇 |
1966年 | 1篇 |
1965年 | 1篇 |
1953年 | 1篇 |
排序方式: 共有1599条查询结果,搜索用时 15 毫秒
11.
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. 总被引:3,自引:1,他引:2
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
S Amselem V Nunes M Vidaud X Estivill C Wong L d''''Auriol D Vidaud F Galibert M Baiget M Goossens 《American journal of human genetics》1988,43(1):95-100
We have delineated the molecular lesions causing beta-thalassemia in Spain, a country that has witnessed the passage of different Mediterranean populations over the centuries, in order to evaluate the extent of heterogeneity of these mutations and to make possible simplified prenatal diagnosis of the disorder in that country. The use of the polymerase chain-reaction (PCR) technique to preferentially amplify beta-globin DNA sequences that contain the most frequent beta-thalassemia mutations in Mediterraneans enabled us to rapidly analyze 58 beta-thalassemia alleles in a dot-blot format either by hybridization with allele-specific radiolabeled oligonucleotide probes or by direct sequence analysis of the amplification product. The Spanish population carries seven different beta-thalassemia mutations; the nonsense codon 39 is predominant (64%), whereas the IVS1 position 110 mutation, the most common cause of beta-thalassemia in the eastern part of the Mediterranean basin, is underrepresented (8.5%). The IVS1 mutation at position 6 accounts for 15% of the defects and leads to a more severe form of beta+-thalassemia than originally described in most of the patients we studied. In this study, we demonstrate further the usefulness of the dot-blot hybridization of PCR-amplified genomic DNA in both rapid population surveys and prenatal diagnosis of beta-thalassemia. 相似文献
12.
Oxygen consumption rates (QO2) of laboratory reared stage one zoeae of Pandalus borealis (Krøyer) at 1.5, 3, 4.5, 6, and 9°C were 1.5, 2.2, 2.6, 3.6 and 4.1μ O2 · mg?1 · h?1, respectively. These values of QO2 correspond to 0.26, 0.38, 0.44, 0.60, and 0.70 μl O2 · individual?1 · h?1. At 10.5 °C oxygen consumption rates decreased suggesting thermally induced respiratory stress.The equation log10QO2 = 0.55 log10T°C + 0.086 describes the relationship between QO2 (μl O2 · mg?1 · h?1) and sea-water temperature between 1.5 and 9°C. Corresponding values of QO2 for an individual (μl O2 · h?1) exhibited the relationship log10QO2 = 0.55 log10T°C ?0.686.The minimum daily metabolic caloric requirements for an individual zoea ranged from 0.04 at 3 °C to 0.07 calories per day at 8 °C. The number of calories ingested daily ranged from 0.4 to 0.5 at 3 to 8 °C. 相似文献
13.
Nunes V. Casals T. Gallano P. Giménez F. J. Kere J. Williamson R. Estivill X. 《Human genetics》1989,83(3):305-306
Summary We report a rare allele detected using pMP6d-9, a probe very closely linked to cystic fibrosis (CF), on digestion with MspI. This allele has been found in normal and CF chromosomes, and therefore cannot be related to the mutation causing the disease. 相似文献
14.
Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1 总被引:6,自引:3,他引:3
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Stephen W. Scherer Parvoneh Poorkaj Todd Allen Julia Kim Dorrit Geshuri Mark Nunes Sylvia Soder Karen Stephens Roberta A. Pagon Michael A. Patton Mary Anne Berg Tim Donlon Horacio Rivera R. A. Pfeiffer Kenji Naritomi Helen Hughes Maurizio Genuardi Fiorella Gurrieri Giovanni Neri Everett Lovrein Ellen Magenis Lap-Chee Tsui James P. Evans 《American journal of human genetics》1994,55(1):12-20
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHFD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON–D7S812–SHFD1–D7S811–ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electro-phoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7. 相似文献
15.
16.
Aristóteles Philippe Nunes Queiroz Maria Lúcia Góes Araújo Nigel E. Hussey Rosângela P. T. Lessa 《Journal of fish biology》2023,102(1):27-43
Understanding the ecological role of species with overlapping distributions is central to inform ecosystem management. Here we describe the diet, trophic level and habitat use of three sympatric stingrays, Hypanus guttatus, H. marianae and H. berthalutzae, through combined stomach content and stable isotope (δ13C and δ15N) analyses. Our integrated approach revealed that H. guttatus is a mesopredator that feeds on a diverse diet of benthic and epibenthic marine and estuarine organisms, principally bivalve molluscs, Alpheus shrimp and teleost fishes. Isotopic data supported movement of this species between marine and estuarine environments. H. berthalutzae is also a marine generalist feeder, but feeds primarily on teleost fishes and cephalopods, and consequently occupies a higher trophic level. In contrast, H. marianae is a mesopredator specialized on shrimps and polychaetas occurring only in the marine environment and occupying a low niche breadth. While niche overlap occurred, the three stingrays utilized the same prey resources at different rates and occupied distinct trophic niches, potentially limiting competition for resources and promoting coexistence. These combined data demonstrate that these three mesopredators perform different ecological roles in the ecosystems they occupy, limiting functional redundancy. 相似文献
17.
18.
Coelho-Rocha Nina Dias de Jesus Luís Cláudio Lima Barroso Fernanda Alvarenga Lima da Silva Tales Fernando Ferreira Enio Gonçalves José Eduardo dos Santos Martins Flaviano de Oliveira Carvalho Rodrigo Dias Barh Debmalya Azevedo Vasco Ariston de Carvalho 《Probiotics and antimicrobial proteins》2023,15(1):160-174
Probiotics and Antimicrobial Proteins - Beneficial effects of Lactiplantibacillus plantarum strains have been widely reported. Knowing that the effects of probiotic bacteria are strain-dependent,... 相似文献
19.
M. Palacín C. Mora J. Chillarón M. J. Calonge R. Estévez D. Torrents X. Testar A. Zorzano V. Nunes J. Purroy X. Estivill P. Gasparini L. Bisceglia L. Zelante 《Amino acids》1996,11(2):225-246
Summary The cDNAs of mammalian amino acid transporters already identified could be grouped into four families. One of these protein families is composed of the protein rBAT and the heavy chain of the cell surface antigen 4F2 (4F2hc). The cRNAs of rBAT and 4F2hc induce amino acid transport activity via systems b0,+ -like and y+L -like inXenopus oocytes respectively. Surprisingly, neither rBAT nor 4F2hc is very hydrophobic, and they seem to be unable to form a pore in the plasma membrane. This prompted the hypothesis that rBAT and 4F2hc are subunits or modulators of the corresponding amino acid transporters. The association of rBAT with a light subunit of ~40kDa has been suggested, and such an association has been demonstrated for 4F2hc.The b0,+-like system expressed in oocytes by rBAT cRNA transports L-cystine, L-dibasic and L-neutral amino acids with high-affinity. This transport system shows exchange of amino acids through the plasma membrane ofXenopus oocytes, suggesting a tertiary active transport mechanism. The rBAT gene is mainly expressed in the outer stripe of the outer medulla of the kidney and in the mucosa of the small intestine. The protein localizes to the microvilli of the proximal straight tubules (S3 segment) of the nephron and the mucosa of the small intestine. All this suggested the participation of rBAT in a high-affinity reabsorption system of cystine and dibasic amino acids in kidney and intestine, and indicated rBAT (named SLC3A1 in Gene Data Bank) as a good candidate gene for cystinuria. This is an inherited aminoaciduria due to defective renal and intestinal reabsorption of cystine and dibasic amino acids. The poor solubility of cystine causes the formation of renal cystine calculi. Mutational analysis of the rBAT gene of patients with cystinuria is revealing a growing number (~20) of cystinuria-specific mutations, including missense, nonsense, deletions and insertions. Mutations M467T (substitution of methionine 467 residue for threonine) and R270X (stop codon at arginine residue 270) represent approximately half of the cystinuric chromosomes where mutations have been found. Mutation M467T reduces transport activity of rBAT in oocytes. All this demonstrates that mutations in the rBAT gene cause cystinuria.Three types of cystinuria (types, I, II and III) have been described on the basis of the genetic, biochemical and clinical manifestations of the disease. Type I cystinuria has a complete recessive inheritance; type I heterozygotes are totally silent. In contrast, type II and III heterozygotes show, respectively, high or moderate hyperaminoaciduria of cystine and dibasic amino acids. Type III homozygotes show moderate, if any, alteration of intestinal absorption of cystine and dibasic amino acids; type II homozygotes clearly show defective intestinal absorption of these amino acids. To date, all the rBAT cystinuria-specific mutations we have found are associated with type I cystinuria (~70% of the chromosomes studied) but not to types II or III. This strongly suggests genetic heterogeneity for cystinuria. Genetic linkage analysis with markers of the genomic region of rBAT in chromosome 2 (G band 2p16.3) and intragenic markers of rBAT have demonstrated genetic heterogeneity for cystinuria; the rBAT gene is linked to type I cystinuria, but not to type III. Biochemical, genetic and clinical studies are needed to identify the additional cystinuria genes; a low-affinity cystine reabsortion system and the putative light subunit of rBAT are additional candidate genes for cystinuria. 相似文献
20.
Nunes OC Manaia CM Da Costa MS Santos H 《Applied and environmental microbiology》1995,61(6):2351-2357
(sup13)C nuclear magnetic resonance spectroscopy and (sup1)H nuclear magnetic resonance spectroscopy were used to identify and quantify the organic solutes of several strains of halophilic or halotolerant thermophilic bacteria. Two strains of Rhodothermus marinus and four strains of "Thermus thermophilus" grown in complex medium containing NaCl were examined. 2-O-Mannosylglycerate was a major compatible solute in all strains: the Thermus strains accumulated the (beta)-anomer only, whereas both anomers were found in R. marinus. 2-O-(beta)-mannosylglycerate and 2-O-(alpha)-mannosylglycerate were the major compatible solutes in R. marinus. The former was the predominant solute in cells grown in 2.0 and 4.0% NaCl-containing medium, while the latter was the predominant compatible solute at higher salinities. Glutamate, trehalose, and glucose were also present as minor components. The intracellular K(sup+) concentration, as determined by (sup39)K nuclear magnetic resonance spectroscopy, in R. marinus increased with salinity and was sufficient to balance the negative charges of the mannosylglycerate. In addition to 2-O-(beta)-mannosylglycerate, trehalose was a major compatible solute of "T. thermophilus." 2-O-(beta)-Mannosylglycerate was the main solute in medium containing 1.0 or 2.0% NaCl, while trehalose predominated in cells grown in medium supplemented with 3.0 or 4.0% NaCl. Glycine betaine, in lower concentrations, was also detected in two "T. thermophilus" strains. This is the first report of mannosylglycerate as a compatible solute in bacteria. 相似文献