全文获取类型
收费全文 | 13992篇 |
免费 | 1380篇 |
国内免费 | 566篇 |
专业分类
耳鼻咽喉 | 84篇 |
儿科学 | 417篇 |
妇产科学 | 650篇 |
基础医学 | 4016篇 |
口腔科学 | 228篇 |
临床医学 | 893篇 |
内科学 | 2099篇 |
皮肤病学 | 244篇 |
神经病学 | 1062篇 |
特种医学 | 143篇 |
外国民族医学 | 2篇 |
外科学 | 694篇 |
综合类 | 1378篇 |
现状与发展 | 3篇 |
一般理论 | 7篇 |
预防医学 | 1098篇 |
眼科学 | 231篇 |
药学 | 923篇 |
2篇 | |
中国医学 | 449篇 |
肿瘤学 | 1315篇 |
出版年
2024年 | 42篇 |
2023年 | 277篇 |
2022年 | 359篇 |
2021年 | 527篇 |
2020年 | 583篇 |
2019年 | 596篇 |
2018年 | 485篇 |
2017年 | 495篇 |
2016年 | 564篇 |
2015年 | 572篇 |
2014年 | 774篇 |
2013年 | 1007篇 |
2012年 | 685篇 |
2011年 | 841篇 |
2010年 | 669篇 |
2009年 | 756篇 |
2008年 | 730篇 |
2007年 | 688篇 |
2006年 | 688篇 |
2005年 | 543篇 |
2004年 | 486篇 |
2003年 | 441篇 |
2002年 | 399篇 |
2001年 | 325篇 |
2000年 | 229篇 |
1999年 | 213篇 |
1998年 | 208篇 |
1997年 | 201篇 |
1996年 | 181篇 |
1995年 | 170篇 |
1994年 | 107篇 |
1993年 | 102篇 |
1992年 | 112篇 |
1991年 | 82篇 |
1990年 | 77篇 |
1989年 | 80篇 |
1988年 | 60篇 |
1987年 | 60篇 |
1986年 | 71篇 |
1985年 | 76篇 |
1984年 | 59篇 |
1983年 | 51篇 |
1982年 | 49篇 |
1981年 | 54篇 |
1980年 | 61篇 |
1979年 | 37篇 |
1978年 | 20篇 |
1977年 | 6篇 |
1976年 | 20篇 |
1973年 | 7篇 |
排序方式: 共有10000条查询结果,搜索用时 183 毫秒
1.
2.
B.B. Damian T.C.S. Bonetti D.D.G. Horovitz 《Brazilian journal of medical and biological research》2015,48(1):25-33
Preimplantation genetic diagnosis (PGD) was originally developed to diagnose
embryo-related genetic abnormalities for couples who present a high risk of a
specific inherited disorder. Because this technology involves embryo selection, the
medical, bioethical, and legal implications of the technique have been debated,
particularly when it is used to select features that are not related to serious
diseases. Although several initiatives have attempted to achieve regulatory
harmonization, the diversity of healthcare services available and the presence of
cultural differences have hampered attempts to achieve this goal. Thus, in different
countries, the provision of PGD and regulatory frameworks reflect the perceptions of
scientific groups, legislators, and society regarding this technology. In Brazil,
several texts have been analyzed by the National Congress to regulate the use of
assisted reproduction technologies. Legislative debates, however, are not conclusive,
and limited information has been published on how PGD is specifically regulated. The
country requires the development of new regulatory standards to ensure adequate
access to this technology and to guarantee its safe practice. This study examined
official documents published on PGD regulation in Brazil and demonstrated how little
direct oversight of PGD currently exists. It provides relevant information to
encourage reflection on a particular regulation model in a Brazilian context, and
should serve as part of the basis to enable further reform of the clinical practice
of PGD in the country. 相似文献
3.
《Journal of vascular surgery》2020,71(1):149-157
ObjectiveVascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015.MethodsThis is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases-9 and 10-CM codes for EDS (756.83 and Q79.6). A review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two cohorts and then compared: those with pathogenic COL3A1 variants and those diagnosed by clinical criteria alone without molecular confirmation.ResultsEleven institutions identified 173 individuals (35.3% male, 56.6% Caucasian) with vEDS. Of those, 11 (9.8%) had nonpathogenic alterations in COL3A1 and were excluded from the analysis. Among the remaining individuals, 86 (47.7% male, 68% Caucasian, 48.8% positive family history) had pathogenic COL3A1 variants and 76 (19.7% male, 19.7% Caucasian, 43.4% positive family history) were diagnosed by clinical criteria alone without molecular confirmation. Compared with the cohort with pathogenic COL3A1 variants, the clinical diagnosis only cohort had a higher number of females (80.3% vs 52.3%; P < .001), mitral valve prolapse (10.5% vs 1.2%; P = .009), and joint hypermobility (68.4% vs 40.7%; P < .001). Additionally, they had a lower frequency of easy bruising (23.7% vs 64%; P < .001), thin translucent skin (17.1% vs 48.8%; P < .001), intestinal perforation (3.9% vs 16.3%; P = .01), spontaneous pneumothorax/hemothorax (3.9% vs 14%, P.03), and arterial rupture (9.2% vs 17.4%; P = .13). There were no differences in mortality or age of mortality between the two cohorts.ConclusionsThis study highlights the importance of confirming vEDS diagnosis by testing for pathogenic COL3A1 variants rather than relying on clinical diagnostic criteria alone given the high degree of overlap with other forms genetically triggered arteriopathies. Because not all COL3A1 variants are pathogenic, the interpretation of the genetic testing results by an individual trained in variant assessment is essential to confirm the diagnosis. An accurate diagnosis is critical and has serious implications for lifelong screening and treatment strategies for the affected individual and family members. 相似文献
4.
Harit Kapoor Kush Raj Lohani Tommy H. Lee Devendra K. Agrawal Sumeet K. Mittal 《CTS Clinical and Translational Science》2015,8(6):841-847
Esophageal adenocarcinoma is the fastest rising cancer in the United States. It develops from long‐standing gastroesophageal reflux disease which affects >20% of the general population. It carries a very poor prognosis with 5‐year survival <20%. The disease is known to sequentially progress from reflux esophagitis to a metaplastic precursor, Barrett''s esophagus and then onto dysplasia and esophageal adenocarcinoma. However, only few patients with reflux develop Barrett''s esophagus and only a minority of these turn malignant. The reason for this heterogeneity in clinical progression is unknown. To improve patient management, molecular changes which facilitate disease progression must be identified. Animal models can provide a comprehensive functional and anatomic platform for such a study. Rats and mice have been the most widely studied but disease homology with humans has been questioned. No animal model naturally simulates the inflammation to adenocarcinoma progression as in humans, with all models requiring surgical bypass or destruction of existing antireflux mechanisms. Valuable properties of individual models could be utilized to holistically evaluate disease progression. In this review paper, we critically examined the current animal models of Barrett''s esophagus, their differences and homologies with human disease and how they have shaped our current understanding of Barrett''s carcinogenesis. 相似文献
5.
Francisca Morgado Mariana Batista Ana Moreno Inês Coutinho 《Pediatric dermatology》2021,38(1):191-193
We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder. 相似文献
6.
Estefany I. Medina-Reyes Carolina Rodríguez-Ibarra Daniel Díaz-Urbina Alejandro Déciga-Alcaraz Normal L. Delgado-Buenrostro Yolanda I. Chirino José Pedraza-Chaverri 《Journal of applied toxicology : JAT》2022,42(8):1411-1419
Food-grade titanium dioxide (E171) is widely used as a food additive, and it is known that after oral consumption, E171 is translocated into the bloodstream reaching the highest titanium level at 6 h. E171 is accumulated in some organs triggering toxicity, but the effects on the blood parameters after oral consumption have been less studied. Recently, evidence shows that oral exposure to E171 induces behavioral signs of anxiety and depression. The relation between blood alterations and psychiatric disorders has been previously demonstrated. However, the oral exposure to E171 effects on alterations in blood parameters and effects linked to alterations in animal behavior has not been explored. In this short communication, we aimed to investigate the effects of E171 on specific blood parameters (hematocrit, hemoglobin, number of erythrocytes, and leukocytes) and anxiety and compulsive-like behavior in males and females orally exposed to ~5 mg/kg for 4 weeks. The results showed that E171 decreased hematocrit and hemoglobin in male but not in female mice while leukocyte and erythrocyte count remained unaltered. Oral consumption of E171 decreased the levels of anxiety-like behavior in females but not in male mice, while compulsive-like behavior was increased in both male and female mice. 相似文献
7.
Nicola Flaum Emma J. Crosbie Richard J. Edmondson Miriam J. Smith Dafydd G. Evans 《Clinical genetics》2020,97(1):54-63
Ovarian cancer is the fourth most common cause of cancer-related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can be used in models to stratify risk of EOC, and aid in decisions regarding risk-reduction strategies. Germline pathogenic variants in EOC susceptibility genes including those involved in homologous recombination and mismatch repair pathways are present in approximately 22% to 25% of EOC. These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) thought to explain an additional 6.4% of the familial risk of ovarian cancer, with 34 susceptibility loci identified to date. However, an unknown proportion of the genetic component of EOC risk remains unexplained. This review comprises an overview of individual genes and SNPs suspected to contribute to risk of EOC, and discusses use of a polygenic risk score to predict individual cancer risk more accurately. 相似文献
8.
9.
《Cancer cell》2020,37(1):123-134.e5
10.
Fuying Chen Linting Huang Changcan Li Jia Zhang Weiqin Yang Beibei Zhang Huaguo Li Dan Deng Jianying Liang Jinwen Shen Zhirong Yao Ming Li 《Clinical genetics》2020,98(2):179-184
Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB. 相似文献