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101.
Smoot EC 《Plastic and reconstructive surgery》2003,112(1):340-341
102.
A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11 总被引:11,自引:0,他引:11
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Ogdie MN Macphie IL Minassian SL Yang M Fisher SE Francks C Cantor RM McCracken JT McGough JJ Nelson SF Monaco AP Smalley SL 《American journal of human genetics》2003,72(5):1268-1279
Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclear families comprising 853 individuals and 270 affected sibling pairs (ASPs). Previously, we reported genomewide linkage analysis of a "first wave" of these families composed of 126 ASPs. A follow-up investigation of one region on 16p yielded significant linkage in an extended sample. The current study extends the original sample of 126 ASPs to 270 ASPs and provides linkage analyses of the entire sample, using polymorphic microsatellite markers that define an approximately 10-cM map across the genome. Maximum LOD score (MLS) analysis identified suggestive linkage for 17p11 (MLS=2.98) and four nominal regions with MLS values >1.0, including 5p13, 6q14, 11q25, and 20q13. These data, taken together with the fine mapping on 16p13, suggest two regions as highly likely to harbor risk genes for ADHD: 16p13 and 17p11. Interestingly, both regions, as well as 5p13, have been highlighted in genomewide scans for autism. 相似文献
103.
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder 总被引:10,自引:0,他引:10
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Fisher SE Francks C McCracken JT McGough JJ Marlow AJ MacPhie IL Newbury DF Crawford LR Palmer CG Woodward JA Del'Homme M Cantwell DP Nelson SF Monaco AP Smalley SL 《American journal of human genetics》2002,70(5):1183-1196
Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a approximately 10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a lambda(s) of > or =3 from 96% of the genome and those with a lambda(s) of > or =2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific lambda(s) of >/=2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a lambda(s) of 2. Only three of the candidates-DRD5, 5HTT, and CALCYON-coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs. 相似文献
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Willie D. Morgan Jeannette E. Williams Cecil W. Lee Clyde J. Dawe 《In vitro cellular & developmental biology. Plant》1979,15(12):1013-1022
Summary Time-lapse phase-contrast cinematography revealed contractile activity within mouse submandibular salivary gland rudiments
in organotypic culture. Three types of contraction were distinguishable. In type I (voiding contractions), all portions of
the gland contracted synchronously, and the active state ranged from 30 min to 2 hr. In type II (priming contractions), all
portions of the gland contracted synchronously, but the active state was shorter, ranging from 4 to 10 min. In type III (churning
contractions), isolated foci in lobules or secretory units throughout the gland contracted asynchronously and had very short
active states of about 1 min. By electron microscopy, myoepithelial cells could first be demonstrated in submandibular glands
developing either in vitro or in vivo, at 21 days postconception. Contractions in the cultured rudiments began as early as
18 days postconception. Since neither smooth nor striated muscle could be identified in these glands by electron microscopy,
the contractions are believed to result from myoepithelial activity that apparently may begin before ultrastructural evidence
of myoepithelial differentiation is contractile function and indirect evidence has lent ample support to this presumption,
the present study represents the first direct cinematographic demonstration and characterization of myoepithelial contractions,
under conditions in vitro. 相似文献
108.
Clyde Williams John Brewer Moya Walker 《European journal of applied physiology and occupational physiology》1992,65(1):18-24
The purpose of the present study was to examine the influence of a high carbohydrate diet on running performances during a 30-km treadmill time trial. Eighteen runners (12 men and 6 women) took part in this study and completed a 30-km time trial on a level treadmill without modifying their food intake (trial 1). The runners were then randomly assigned to a control or a carbohydrate (CHO) group. The CHO group supplemented their normal diets with additional carbohydrate in the form of confectionery products during the 7 days before trial 2; the control group matched the increased energy intake of the CHO group by consuming additional fat and protein. The mean (SEM) carbohydrate intake of both groups was 334 (22) g before trial 1, after which the CHO group consumed 566 (29) g.day-1 for the first 3 days and 452 (26) g.day-1 for the remaining 4 days of recovery. Although there was no overall difference between the performance times for the two groups during trial 2, the CHO group ran faster during the last 5 km of trial 2 than during trial 1 [3.64 (0.24) m.s-1 vs 3.44 (0.26) m.s-1; P less than 0.05]. Furthermore, the 6 men in the CHO group ran the 30 km faster after carbohydrate loading [131.0 (5.4) min vs 127.4 (4.9) min; P less than 0.05], whereas there was no such improvement in times of the men in the control group.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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