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101.
Isabell Brikell Laura Ghirardi Brian M. D’Onofrio David W. Dunn Catarina Almqvist Søren Dalsgaard Ralf Kuja-Halkola Henrik Larsson 《Neuropsychopharmacology》2018,83(2):173-180
Background
Epilepsy and attention-deficit/hyperactivity disorder (ADHD) are strongly associated; however, the underlying factors contributing to their co-occurrence remain unclear. A shared genetic liability has been proposed as one possible mechanism. Therefore, our goal in this study was to investigate the familial coaggregation of epilepsy and ADHD and to estimate the contribution of genetic and environmental risk factors to their co-occurrence.Methods
We identified 1,899,654 individuals born between 1987 and 2006 via national Swedish registers and linked each individual to his or her biological relatives. We used logistic regression to estimate the association between epilepsy and ADHD within individual and across relatives. Quantitative genetic modeling was used to decompose the cross-disorder covariance into genetic and environmental factors.Results
Individuals with epilepsy had a statistically significant increased risk of ADHD (odds ratio [OR] = 3.47, 95% confidence interval [CI] = 3.33–3.62). This risk increase extended to children whose mothers had epilepsy (OR = 1.85, 95% CI = 1.75–1.96), children whose fathers had epilepsy (OR = 1.64, 95% CI = 1.54–1.74), full siblings (OR = 1.56, 95% CI = 1.46–1.67), maternal half siblings (OR = 1.28, 95% CI = 1.14–1.43), paternal half siblings (OR = 1.10, 95% CI = 0.96–1.25), and cousins (OR = 1.15, 95% CI = 1.10–1.20). The genetic correlation was 0.21 (95% CI = 0.02–0.40) and explained 40% of the phenotypic correlation between epilepsy and ADHD, with the remaining variance largely explained by nonshared environmental factors (49%, nonshared environmental correlation = 0.36, 95% CI = 0.23–0.49). The contribution of shared environmental factors to the cross-disorder overlap was not statistically significant (11%, shared environmental correlation = 0.32, 95% CI = ?0.16–0.79).Conclusions
This study demonstrates a strong and etiologically complex association between epilepsy and ADHD, with shared familial factors and risk factors unique to the individual contributing to co-occurrence of the disorders. Our findings suggest that epilepsy and ADHD may share less genetic risk as compared with other neurodevelopmental disorders. 相似文献102.
103.
This report describes an underrecognized entity of the penis that is associated with chronic condom catheter use and phimosis. Our study group consisted of 7 patients who presented with polypoid or cauliflower-like masses that involved the glans penis or prepuce and that ranged in size from 2 to 7.5 cm in greatest dimension (median size, 2.5 cm). The majority of lesions affected the ventral surface of the glans, near the urethral meatus. The patients ranged in age from 25 to 58 years (median age, 40 years) at the time of initial surgical resection. The preoperative duration of the lesions ranged from 6 months to 10 years. Five patients had a history of long-term condom catheter use (duration: 5 to 21 years), and 1 patient had paraphimosis. The background history for 1 patient is unknown. Histologically, all specimens had a polypoid configuration and a keratinizing squamous epithelial surface. The underlying stroma was notably edematous, and there was vascular dilation of preexisting vessels, and in many instances, a focal mild small vessel proliferation. The stroma had mildly to moderately increased cellularity with mononucleated and multinucleated mesenchymal cells. A mild inflammatory infiltrate was often present. Two cases were examined with immunohistochemistry, and the stromal cells had limited immunoreactivity for muscle-specific actin, alpha-smooth muscle actin, and desmin and had no reactivity for S100 protein or CD34. Surgical intervention was local in all instances. Follow-up information was available for 5 of the 7 patients (71%), with a mean follow-up interval of 11 years 4 months. Two patients developed a local recurrence of the process at intervals of less than 1 years and 3 years 7 months. Both recurrent lesions were also managed by local excision. 相似文献
104.
Purdy IB 《Nursing forum》2004,39(4):25-33
TOPIC: In spite of the significance of vulnerable as a phenomenon that affects the human condition, its essence remains complex and elusive. PURPOSE: A conceptual analysis to clarify knowledge of this concept to explore the common and scientific usage. SOURCES OF INFORMATION: A comprehensive and systematic review from bibliographic and abstract databases and online searches. CONCLUSIONS: Findings contributed to the definition of vulnerable as a highly individualized dynamic process of being open to circumstances that positively or negatively influence outcomes, a definition based on a synthesis of knowledge concerning vulnerable, and offers a reconceptualization that expands its use in nursing scientific theory, research, and clinical practice. 相似文献
105.
Breidenbach M Rein DT Schöndorf T Khan KN Herrmann I Schmidt T Reynolds PN Vlodavsky I Haviv YS Curiel DT 《Cancer letters》2006,240(1):114-122
Gene therapy with adenoviral (Ad) vectors is a promising new approach in the treatment of cancer. Strategies to restrict adenoviral-mediated transgene expression are important to avoid gene transfer into normal cells. Heparanase (HPR) is overexpressed in breast cancer but downregulated in differentiated normal tissue. Expression of the HPR gene was evaluated in breast cancer cells. Biodistribution and liver tropism was evaluated in a mouse model. HPR is highly expressed in breast cancer tissue. The HPR promoter retained its fidelity in an adenovirus context and was activated in breast cancer cells but showed low activity in normal breast cells and the murine liver. We conclude that the HPR pathway is a promising target for the development of breast cancer directed gene therapy strategies. 相似文献
106.
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108.
Sabine Langer Jürgen Kraus Isabell Jentsch Michael R. Speicher 《Chromosome research》2004,12(1):15-23
For many years whole chromosome painting probes have been the work-horses in a large variety of clinical and research molecular cytogenetic applications. In recent years painting probes have been complemented by an increasing number of further region-specific probes, which allow the specific staining of centromeres, subtelomeres or other regions within the genome. This development of new probe sets was greatly facilitated by the Human Genome Project from which well-characterized probes for any region within the genome have emerged. Furthermore, the evolution of different multicolor fluorescence in situ hybridization (FISH) technologies now allows the cohybridization of multiple DNA-probes of different colors. These developments have paved the way for FISH-based automated karyotyping or the simultaneous analysis of multiple defined regions within the genome. Using appropriate instrumentation and image processing, the analysis can be performed two-dimensionally on metaphase spreads or three-dimensionally in intact interphase nuclei. Here we summarize some of the most recent developments and discuss the application of painting probes in different scenarios. 相似文献
109.
Chemicals may induce both numerical and structural aberrations. In addition to these chromosomal mutations, chemicals may render cells genetically unstable, which may result in chromosomal instability. For a detailed analysis, sophisticated approaches at single cell resolution are needed. Such approaches have become feasible by recent developments in molecular cytogenetics. In particular, new multicolor fluorescence in situ hybridization (FISH) technologies allow us now to study the effects of chemicals on chromosomes with unprecedented resolution. FISH provides opportunities to analyze the genome in two dimensions, i.e. on metaphase spreads, or in three dimensions, i.e. in interphase nuclei. An arsenal of diverse multicolor FISH approaches has been developed, which allows the analysis of the entire genome with one hybridization on metaphase spreads or the detailed visualization of selected chromosomal regions within intact interphase nuclei. These developments have been complemented by new resources for DNA probes, which have evolved from the human genome project. Here we will review the latest developments and provide some examples in which multicolor FISH technologies were applied to elucidate the effect of chemicals on chromosomes. 相似文献
110.