全文获取类型
收费全文 | 55篇 |
免费 | 12篇 |
专业分类
67篇 |
出版年
2023年 | 1篇 |
2021年 | 2篇 |
2018年 | 2篇 |
2017年 | 1篇 |
2016年 | 3篇 |
2015年 | 1篇 |
2014年 | 3篇 |
2013年 | 3篇 |
2012年 | 4篇 |
2011年 | 5篇 |
2010年 | 3篇 |
2009年 | 1篇 |
2008年 | 1篇 |
2007年 | 4篇 |
2006年 | 1篇 |
2005年 | 3篇 |
2004年 | 2篇 |
2003年 | 1篇 |
2002年 | 3篇 |
2001年 | 3篇 |
1999年 | 6篇 |
1998年 | 2篇 |
1997年 | 3篇 |
1996年 | 2篇 |
1995年 | 1篇 |
1994年 | 1篇 |
1990年 | 2篇 |
1989年 | 1篇 |
1985年 | 1篇 |
1968年 | 1篇 |
排序方式: 共有67条查询结果,搜索用时 0 毫秒
1.
2.
Kalscheuer VM FitzPatrick D Tommerup N Bugge M Niebuhr E Neumann LM Tzschach A Shoichet SA Menzel C Erdogan F Arkesteijn G Ropers HH Ullmann R 《Human genetics》2007,121(3-4):501-509
We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the
autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders.
One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation.
The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both
carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549–554, 1986; Sultana et al. in Genomics 80:129–134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together
with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes,
we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation. 相似文献
3.
To increase student engagement, active participation, and performance, personal response systems (clickers) were incorporated into six lecture-based sections of four required courses within the Health Sciences Department major curriculum: freshman-level Anatomy and Physiology I and II, junior-level Exercise Physiology, and senior-level Human Pathophysiology. Clickers were used to gather anonymous student responses to questions posed within the class period after individual thought and peer discussion. Students (n = 293, 88% of students completing the courses) completed a perceptual survey on clicker effectiveness inserted into the Student Assessment of Learning Gains online instrument. Across courses and years, students uniformly rated several dimensions of clicker use as providing good to great gain in engaging them in active learning, increasing participation and involvement during class, maintaining attention, applying material immediately, providing feedback concerning their understanding, and offering an anonymous format for participation. Within these four sections, quiz grades were compared between clicker and nonclicker years. Significant increases in pre- and posttest scores were seen in Exercise Physiology in clicker years and on some, but not all material, in Anatomy and Physiology I and II based on content quizzes. Human Pathophysiology results were unexpected, with higher quiz scores in the nonclicker year. The results support the hypothesis of increased engagement with clicker use. The hypothesis of increased student performance was not consistently supported. Increased performance was seen in Exercise Physiology. In Anatomy and Physiology I and II, performance improved on some content quizzes. In Human Pathophysiology, performance did not improve with clickers. 相似文献
4.
5.
Corrado Marcenò Riccardo Guarino Javier Loidi Mercedes Herrera Maike Isermann Ilona Knollová Lubomír Tichý Rossen T. Tzonev Alicia Teresa Rosario Acosta Úna FitzPatrick Dmytro Iakushenko John A. M. Janssen Borja Jiménez‐Alfaro Zygmunt Kącki Iva Keizer‐Sedláková Vitaliy Kolomiychuk John S. Rodwell Joop H. J. Schaminée Urban Šilc Milan Chytrý 《应用植被学》2018,21(3):533-559
6.
A study of bacterial surface oligosaccharides were investigated among
different strains of Neisseria gonorrhoeae to correlate structural features
essential for binding to the MAb 2C7. This epitope is widely expressed and
conserved in gonococcal isolates, characteristics essential to an effective
candidate vaccine antigen. Sample lipooligosaccharides (LOS), was prepared
by a modification of the hot phenol-water method from which de-O-acetylated
LOS and oligosaccharide (OS) components were analyzed by ES-MS-CID-MS and
ES-MSnin a triple quadrupole and an ion trap mass spectrometer,
respectively. Previously documented natural heterogeneity was apparent from
both LOS and OS preparations which was admixed with fragments induced by
hydrazine and mild acid treatment. Natural heterogeneity was limited to
phosphorylation and antenni extensions to the alpha-chain. Mild acid
hydrolysis to release OS also hydrolyzed the beta(1-->6) glycosidic
linkage of lipid A. OS structures were determined by collisional and
resonance excitation combined with MS and multistep MSn which provided
sequence information from both neutral loss, and nonreducing terminal
fragments. A comparison of OS structures, with earlier knowledge of MAb
binding, enzyme treatment, and partial acid hydrolysis indicates a generic
overlapping domain for 2C7 binding. Reoccurring structural features include
a Hepalpha(1-->3)Hepbeta(1-->5)KDO trisaccharide core branched on the
nonreducing terminus (Hep-2) with an alpha(1-->2) linked GlcNAc
(gamma-chain), and an alpha-linked lactose (beta-chain) residue. From the
central heptose (Hep-1), a beta(1-->4) linked lactose (alpha-chain),
moiety is required although extensions to this residue appear unnecessary.
相似文献
7.
C M Brewer J P Leek A J Green S Holloway D T Bonthron A F Markham D R FitzPatrick 《American journal of human genetics》1999,65(2):387-396
We present evidence for the existence of a novel chromosome 2q32 locus involved in the pathogenesis of isolated cleft palate. We have studied two unrelated patients with strikingly similar clinical features, in whom there are apparently balanced, de novo cytogenetic rearrangements involving the same region of chromosome 2q. Both children have cleft palate, facial dysmorphism, and mild learning disability. Their karyotypes were originally reported as 46, XX, t(2;7)(q33;p21) and 46, XX, t(2;11)(q33;p14). However, our molecular cytogenetic analyses localize both translocation breakpoints to a small region between markers D2S311 and D2S116. This suggests that the true location of these breakpoints is 2q32 rather than 2q33. To obtain independent support for the existence of a cleft-palate locus in 2q32, we performed a detailed statistical analysis for all cases in the human cytogenetics database of nonmosaic, single, contiguous autosomal deletions associated with orofacial clefting. This revealed 2q32 to be one of only three chromosomal regions in which haploinsufficiency is significantly associated with isolated cleft palate. In combination, our data provide strong evidence for the location at 2q32 of a gene that is critical to the development of the secondary palate. The close proximity of these two translocation breakpoints should also allow rapid progress toward the positional cloning of this cleft-palate gene. 相似文献
8.
Fitzpatrick CK Baldwin MA Laz PJ FitzPatrick DP Lerner AL Rullkoetter PJ 《Journal of biomechanics》2011,44(13):2446-2452
Patellofemoral (PF)-related pathologies, including joint laxity, patellar maltracking, cartilage degradation and anterior knee pain, affect nearly 25% of the population. Researchers have investigated the influence of articular geometry on kinematics and contact mechanics in order to gain insight into the etiology of these conditions. The purpose of the current study was to create a three-dimensional statistical shape model of the PF joint and to characterize relationships between PF shape and function (kinematics and contact mechanics). A statistical shape model of the patellar and femoral articular surfaces and their relative alignment was developed from magnetic resonance images. Using 15 shape parameters, the model characterized 97% of the variation in the training set. The first three shape modes primarily described variation in size, patella alta-baja and depth of the sulcus groove. A previously verified finite element model was used to predict kinematics and contact mechanics for each subject. Combining the shape and joint mechanics data, a statistical shape-function model was developed that established quantitative relations of how changes in the shape of the PF joint influence mechanics. The predictive capability of the shape-function model was evaluated by comparing statistical model and finite element predictions, resulting in kinematic root mean square errors of less than 3° and 2.5 mm. The key results of the study are dually in the implementation of a novel approach linking statistical shape and finite element models and the relationships elucidated between PF articular geometry and mechanics. 相似文献
9.
Maren Ziegler Shannon K. FitzPatrick Ingo Burghardt Katie L. Liberatore A. Joshua Leffler Cristina Takacs-Vesbach Ursula Shepherd 《Coral reefs (Online)》2014,33(4):1085-1099
In this study, we examined two non-scleractinian taxa, the rare nudibranch Phyllodesmium lizardensis and Bayerxenia sp., the octocoral on which the nudibranch lives and feeds, to investigate the effect of experimental heat stress on their symbioses with Symbiodinium. Bleaching has not been studied in nudibranchs. Bayerxenia sp. belongs to the alcyonacea family Xeniidae, members of which are known to be heat sensitive, but the genus has never been subject to heat stress experiments or bleaching observations. While qPCR did not reveal any changes to the symbiont community composition, the two host species responded differently to increased temperature. There were changes in the relative proportion of tissue types in Bayerxenia sp., but these were not attributable to the temperature treatment. Bayerxenia sp. exhibited no changes in cellular structure (apoptosis or cell necrosis), or symbiont functioning, cell size, density, or cladal community structure. On the other hand, the host, P. lizardensis, experienced tissue loss and symbiont densities decreased significantly with the majority of the remaining symbiont cells significantly degenerated after the heat stress. This decrease did not influence symbiont community composition, symbiont cell size, or photosynthetic efficiency. While the bleaching process in nudibranchs was demonstrated for the first time, the physiological and molecular pathways leading to this response still require attention. 相似文献
10.
Intrinsic protein fluorescence may interfere with the visualization of proteins after SDS-polyacrylamide electrophoresis. In an attempt to analyze tear glycoproteins in gels, we ran tear samples and stained the proteins with a glycoprotein-specific fluorescent dye. The fluorescence detected was not limited to glycoproteins. There was strong intrinsic fluorescence of proteins normally found in tears after soaking the gels in 40% methanol plus 1-10% acetic acid and, to a lesser extent, in methanol or acetic acid alone. Nanograms of proteins gave visible native fluorescence and interfere with extrinsic fluorescent dye detection. Poly-L-lysine, which does not contain intrinsically fluorescent amino acids, did not fluoresce. 相似文献