全文获取类型
收费全文 | 82篇 |
免费 | 14篇 |
专业分类
96篇 |
出版年
2022年 | 1篇 |
2018年 | 1篇 |
2016年 | 1篇 |
2015年 | 4篇 |
2014年 | 2篇 |
2013年 | 9篇 |
2012年 | 3篇 |
2011年 | 3篇 |
2010年 | 4篇 |
2009年 | 3篇 |
2008年 | 1篇 |
2007年 | 10篇 |
2006年 | 9篇 |
2005年 | 3篇 |
2004年 | 3篇 |
2003年 | 7篇 |
2002年 | 1篇 |
2001年 | 2篇 |
1999年 | 2篇 |
1998年 | 3篇 |
1997年 | 2篇 |
1996年 | 1篇 |
1995年 | 3篇 |
1992年 | 2篇 |
1991年 | 1篇 |
1990年 | 2篇 |
1989年 | 3篇 |
1988年 | 1篇 |
1986年 | 2篇 |
1984年 | 1篇 |
1979年 | 1篇 |
1974年 | 1篇 |
1968年 | 1篇 |
1964年 | 1篇 |
1949年 | 1篇 |
1939年 | 1篇 |
排序方式: 共有96条查询结果,搜索用时 15 毫秒
1.
Marga Vicedo 《Biology & philosophy》1990,5(3):293-311
T. H. Morgan (1866–1945), the founder of the Drosophila research group in genetics that established the chromosome theory of Mendelian inheritance, has been described as a radical empiricist in the historical literature. His empiricism, furthermore, is supposed to have prejudiced him against certain scientific conclusions. This paper aims to show two things: first, that the sense in which the term empiricism has been used by scholars is too weak to be illuminating. It is necessary to distinguish between empiricism as an epistemological position and the so-called methodological empiricism. I will argue that the way the latter has been presented cannot distinguish an empiricist methodology from a non-empiricist one. Second, I will show that T. H. Morgan was not an epistemological empiricist as this term is usually defined in philosophy. The reason is that he believed in the existence of genes as material entities when they were unobservable entities when they were unobservable entities introduced to account for the phenotypic ratios found in breeding experiments. These two points, of course, are interrelated. If we were to water down the meaning of empiricis, perhaps we could call Morgan an empiricist. But then we would also fail to distinguish empiricism from realism. 相似文献
2.
Michael C. Iannuzzi Robert C. Stern Francis S. Collins Catherine Tom Hon Noriko Hidaka Theresa Strong Lisa Becker Mitchell L. Drumm Marga B. White Bernard Gerrard Michael Dean 《American journal of human genetics》1991,48(2):227-231
Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368. 相似文献
3.
A long-range restriction map of the human chromosome 19q13 region: Close physical linkage between CKMM and the ERCC1 and ERCC2 genes 总被引:12,自引:4,他引:8 下载免费PDF全文
4.
Age at onset in two common neurodegenerative diseases is genetically controlled 总被引:16,自引:1,他引:16 下载免费PDF全文
Li YJ Scott WK Hedges DJ Zhang F Gaskell PC Nance MA Watts RL Hubble JP Koller WC Pahwa R Stern MB Hiner BC Jankovic J Allen FA Goetz CG Mastaglia F Stajich JM Gibson RA Middleton LT Saunders AM Scott BL Small GW Nicodemus KK Reed AD Schmechel DE Welsh-Bohmer KA Conneally PM Roses AD Gilbert JR Vance JM Haines JL Pericak-Vance MA 《American journal of human genetics》2002,70(4):985-993
To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%–60% were found in both the AD and PD data sets. For PD, significant evidence for linkage to AAO was found on chromosome 1p (LOD = 3.41). For AD, the AAO effect of APOE (LOD = 3.28) was confirmed. In addition, evidence for AAO linkage on chromosomes 6 and 10 was identified independently in both the AD and PD data sets. Subsequent unified analyses of these regions identified a single peak on chromosome 10q between D10S1239 and D10S1237, with a maximum LOD score of 2.62. These data suggest that a common gene affects AAO in these two common complex neurodegenerative diseases. 相似文献
5.
Marga G. A. Goris Vanessa Kikken Masja Straetemans Sandra Alba Marco Goeijenbier Eric C. M. van Gorp Kimberly R. Boer Jiri F. P. Wagenaar Rudy A. Hartskeerl 《PloS one》2013,8(10)
Background
Leptospirosis is a global zoonotic disease. Although important for the assessment of the burden of leptospirosis, data on the duration of the illness and the occurrence of post-leptospirosis complaints are not well documented. Hence the main objective of this study was to estimate the occurrence of persistent complaints and duration of hospital stay in laboratory confirmed leptospirosis patients in the Netherlands during 1985 to 2010. Additionally, several risk factors potentially impacting on the occurrence of post-leptospirosis complaints were investigated.Methods/Principal Findings
The duration of the acute phase of leptospirosis was 16 days (IQR 12–23); 10 days (IQR 7–16) were spent hospitalized. Eighteen fatal cases were excluded from this analysis. Complaints of leptospirosis patients by passive case investigations (CPC) derived from files on ambulant consultations occurring one month after hospital discharge, revealed persistent complaints in 108 of 236 (45.8%) laboratory confirmed cases. Data on persistent complaints after acute leptospirosis (PCAC), assessed in 225 laboratory confirmed leptospirosis cases collected through questionnaires during 1985-1993, indicated 68 (30.2%) PCAC cases. Frequently reported complaints included (extreme) fatigue, myalgia, malaise, headache, and a weak physical condition. These complaints prolonged in 21.1% of the cases beyond 24 months after onset of disease. There was no association between post-leptospirosis complaints and hospitalization. However, individuals admitted at the intensive care unit (ICU) were twice as likely to have continuing complaints after discharge adjusting for age and dialysis (OR 2.0 95% CI 0.8-4.8). No significant association could be found between prolongation of complaints and infecting serogroup, although subgroup analysis suggest that infection with serogroups Sejroe (OR 4.8, 95%CI 0.9-27.0) and icterohaemorrhagiae (OR 2.0, 95%CI 0.9-4.3 CI) are more likely to result in CPC than infections with serogroup Grippotyphosa.Conclusion/Significance
In addition to the acute disease, persistent complaints have an impact on the burden of leptospirosis. 相似文献6.
Richard?IvellEmail author Marga?Balvers Yvonne?Pohnke Ralph?Telgmann Olaf?Bartsch Karin?Milde-Langosch Ana-maria?Bamberger Almuth?Einspanier 《Reproductive biology and endocrinology : RB&E》2003,1(1):114
Background
The receptor for the peptide hormone relaxin has recently been identified as the heptahelical G-protein coupled receptor, LGR7. In order to generate molecular tools with which to characterize both in vivo and in vitro expression of this receptor in human and primate tissues, specific monotypic antibodies have been generated and applied to a preliminary analysis of human and primate female reproductive tissues. 相似文献7.
Melchers WJ Bakkers JM Toonen M van Kuppeveld FJ Trijbels M Hoogkamp-Korstanje JA 《FEMS immunology and medical microbiology》2003,36(1-2):111-113
Streptococcus agalactiae or group B streptococcus (GBS) is the most common cause of neonatal sepsis and meningitis in neonates. One of the major questions is whether the GBS strains able to cause neonatal invasive disease have peculiar genetic features. A collection of S. agalactiae strains, isolated from cervix, vagina and rectum of 10 mothers and from throat, ear and umbilicus of their newborns was genetically characterized by pulsed-field gel electrophoresis (PFGE). This study demonstrated that the strains isolated from each mother and her child were all genetically identical but that the strains from the 10 mother/child pairs mutually were genetically heterogeneous and 10 different PFGE patterns were found. Although it has been suggested that PFGE would be able to identify virulence traits to direct decisions in antibiotic management, the heterogeneous feature of GBS strains does not support broad application. 相似文献
8.
Role of UEV-1, an Inactive Variant of the E2 UbiquitinConjugating Enzymes, in In Vitro Differentiation and Cell Cycle Behavior of HT-29-M6 Intestinal Mucosecretory Cells 总被引:1,自引:0,他引:1 下载免费PDF全文
9.
Paul R. Torgerson José E. Hagan Federico Costa Juan Calcagno Michael Kane Martha S. Martinez-Silveira Marga G. A. Goris Claudia Stein Albert I. Ko Bernadette Abela-Ridder 《PLoS neglected tropical diseases》2015,9(10)
Background
Leptospirosis, a spirochaetal zoonosis, occurs in diverse epidemiological settings and affects vulnerable populations, such as rural subsistence farmers and urban slum dwellers. Although leptospirosis can cause life-threatening disease, there is no global burden of disease estimate in terms of Disability Adjusted Life Years (DALYs) available.Methodology/Principal Findings
We utilised the results of a parallel publication that reported global estimates of morbidity and mortality due to leptospirosis. We estimated Years of Life Lost (YLLs) from age and gender stratified mortality rates. Years of Life with Disability (YLDs) were developed from a simple disease model indicating likely sequelae. DALYs were estimated from the sum of YLLs and YLDs. The study suggested that globally approximately 2·90 million DALYs are lost per annum (UIs 1·25–4·54 million) from the approximately annual 1·03 million cases reported previously. Males are predominantly affected with an estimated 2·33 million DALYs (UIs 0·98–3·69) or approximately 80% of the total burden. For comparison, this is over 70% of the global burden of cholera estimated by GBD 2010. Tropical regions of South and South-east Asia, Western Pacific, Central and South America, and Africa had the highest estimated leptospirosis disease burden.Conclusions/Significance
Leptospirosis imparts a significant health burden worldwide, which approach or exceed those encountered for a number of other zoonotic and neglected tropical diseases. The study findings indicate that highest burden estimates occur in resource-poor tropical countries, which include regions of Africa where the burden of leptospirosis has been under-appreciated and possibly misallocated to other febrile illnesses such as malaria. 相似文献10.
Jose Manuel Trujillo Gómez Laura Díaz-Gete Carlos Martín-Cantera Mireia Fábregas Escurriola Maribel Lozano Moreno Raquel Burón Leandro Ana María Gomez Quintero Jose Luis Ballve María Lourdes Clemente Jiménez Elisa Puigdomènech Puig Ramón Casas More Beatriz Garcia Rueda Marc Casajuana Marga Méndez-Aguirre David Garcia Bonias Soraya Fernández Maestre Jessica Sánchez Fondevila 《PloS one》2015,10(9)