全文获取类型
收费全文 | 746篇 |
免费 | 37篇 |
出版年
2022年 | 9篇 |
2021年 | 17篇 |
2020年 | 7篇 |
2019年 | 8篇 |
2018年 | 20篇 |
2017年 | 13篇 |
2016年 | 23篇 |
2015年 | 30篇 |
2014年 | 41篇 |
2013年 | 30篇 |
2012年 | 57篇 |
2011年 | 66篇 |
2010年 | 38篇 |
2009年 | 39篇 |
2008年 | 41篇 |
2007年 | 49篇 |
2006年 | 37篇 |
2005年 | 32篇 |
2004年 | 41篇 |
2003年 | 33篇 |
2002年 | 28篇 |
2001年 | 9篇 |
2000年 | 4篇 |
1999年 | 4篇 |
1998年 | 3篇 |
1996年 | 5篇 |
1995年 | 3篇 |
1994年 | 2篇 |
1993年 | 3篇 |
1992年 | 5篇 |
1991年 | 3篇 |
1990年 | 12篇 |
1989年 | 5篇 |
1988年 | 9篇 |
1987年 | 10篇 |
1986年 | 9篇 |
1985年 | 3篇 |
1984年 | 7篇 |
1979年 | 3篇 |
1978年 | 2篇 |
1975年 | 2篇 |
1973年 | 1篇 |
1972年 | 5篇 |
1971年 | 2篇 |
1970年 | 1篇 |
1969年 | 3篇 |
1965年 | 1篇 |
1946年 | 1篇 |
1945年 | 2篇 |
1944年 | 1篇 |
排序方式: 共有783条查询结果,搜索用时 15 毫秒
1.
2.
Mirjam Frischknecht Vidhya Jagannathan Philippe Plattet Markus Neuditschko Heidi Signer-Hasler Iris Bachmann Alicja Pacholewska Cord Dr?gemüller Elisabeth Dietschi Christine Flury Stefan Rieder Tosso Leeb 《PloS one》2015,10(10)
The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses. 相似文献
3.
Studies have been made on the activity of two mitochondrial enzymes, Mg2+ ATPase (E.C.3.6.1.3.) and cytochrome c-oxidase (E.C.I.9.3.2.) in microsporocytes and somatic cells of anther in larch.
The material for study were homogeneous fractions of microsporocytes from 15 stages of meiosis and the attendant anther somatic
cells. The results have demonstrated that cells undergoing meiosis exhibit considerable mitochondrial metabolic activity.
It is characterized by considerable variations in the activity level of both enzymes studied. The level and dynamics of variations
of Mg2+-ATPase and cytochrome c-oxidase activity in microsporocytes are clearly different from those in the anther somatic cells.
The cytochrome c-oxidase activity in microsporocytes throughout microsporogenesis is higher compared with that in the anther
wall cells, whereas the Mg2+-ATPase activity in microsporocytes averagesca. one half that in the anther somatic cells
The dynamics of activity variations of the enzymes under study suggests enhanced mitochondrial metabolism in the period of
middle diplotene and young dyad. This result supports the thesis following from our earlier studies that the middle diplotene
and young dyad constitute specific metabolic switches in microsporogenesis in larch. 相似文献
4.
Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:) 总被引:1,自引:0,他引:1
In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities. 相似文献
5.
Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype 总被引:2,自引:0,他引:2
In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmorphic syndrome compatible with the clinical diagnostic of Aarskog syndrome. 相似文献
6.
Summary A review of 569 male patients with X-chromosome polysomies (544 Klinefelter and 25 patients with other types of X-chromosome polysomy) is presented here. These patients were detected among the 77000 persons karyotyped in the Leuven cytogenetic center between the years 1966 and 1987. In the group of 544 Klinefelter patients special attention was paid to (1) the age at diagnosis, (2) social and marital status of the postpubertal males, (3) physical and intellectual abilities of the prepubertal boys, (4) delineation of the concurrence of Klinefelter syndrome and fragile X syndrome, and (5) the frequency of malignancies. In 25 patients with other X-chromosome polysomies (2 n48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Finally, double aneuploidy and rare structural X-chromosome aberrations are briefly discussed. 相似文献
7.
8.
A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43. 相似文献
9.
In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts. 相似文献
10.