全文获取类型
收费全文 | 7986篇 |
免费 | 573篇 |
国内免费 | 21篇 |
专业分类
耳鼻咽喉 | 63篇 |
儿科学 | 309篇 |
妇产科学 | 214篇 |
基础医学 | 1303篇 |
口腔科学 | 117篇 |
临床医学 | 938篇 |
内科学 | 1590篇 |
皮肤病学 | 142篇 |
神经病学 | 1079篇 |
特种医学 | 91篇 |
外科学 | 616篇 |
综合类 | 62篇 |
一般理论 | 14篇 |
预防医学 | 1028篇 |
眼科学 | 56篇 |
药学 | 432篇 |
中国医学 | 15篇 |
肿瘤学 | 511篇 |
出版年
2023年 | 49篇 |
2022年 | 89篇 |
2021年 | 226篇 |
2020年 | 129篇 |
2019年 | 228篇 |
2018年 | 221篇 |
2017年 | 158篇 |
2016年 | 190篇 |
2015年 | 204篇 |
2014年 | 276篇 |
2013年 | 427篇 |
2012年 | 624篇 |
2011年 | 608篇 |
2010年 | 325篇 |
2009年 | 270篇 |
2008年 | 465篇 |
2007年 | 557篇 |
2006年 | 507篇 |
2005年 | 494篇 |
2004年 | 459篇 |
2003年 | 442篇 |
2002年 | 390篇 |
2001年 | 77篇 |
2000年 | 36篇 |
1999年 | 50篇 |
1998年 | 101篇 |
1997年 | 81篇 |
1996年 | 89篇 |
1995年 | 58篇 |
1994年 | 54篇 |
1993年 | 67篇 |
1992年 | 40篇 |
1991年 | 29篇 |
1990年 | 36篇 |
1989年 | 32篇 |
1988年 | 31篇 |
1987年 | 27篇 |
1986年 | 22篇 |
1985年 | 23篇 |
1984年 | 36篇 |
1983年 | 19篇 |
1982年 | 43篇 |
1981年 | 47篇 |
1980年 | 24篇 |
1979年 | 16篇 |
1978年 | 23篇 |
1977年 | 18篇 |
1976年 | 16篇 |
1971年 | 12篇 |
1970年 | 11篇 |
排序方式: 共有8580条查询结果,搜索用时 0 毫秒
41.
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
Sarju G Mehta Giles D J Watts Jennifer L Adamson Mike Hutton Geanie Umberger Shuling Xiong Sheena Ramdeen Mark A Lovell Virginia E Kimonis Charles D Smith 《Genetics in medicine》2007,9(1):9-13
PURPOSE: Inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia is an adult-onset autosomal dominant illness (IBMPFD) caused by mutations in the valosin-containing protein (VCP) on chromosome 9p21.1-p12. The penetrance of the gene is 82% for myopathy, 49% for Paget's disease, but may be as low as 30% for frontotemporal dementia. Modifier genes could account for decreased frontotemporal dementia penetrance. In this study apolipoprotein-E (APOE) was evaluated for this role in IBMPFD families based on its known modifier effect in Alzheimer's disease. METHODS: From a database of 231 members of 15 families, 174 had APOE genotype available for analysis. Logistic regressions on APOE genotype and frontotemporal dementia were performed, using appropriate covariates. RESULTS AND CONCLUSION: FTD was associated with APOE 4 genotype (P=0.0002), myopathy (P=0.0006), and age (P=0.01), but not microtubule associated protein tau (MAPT) H2 haplotype (P=0.5) or gender (0.09) after adjustment for membership in pedigrees with at least one APOE 4 genotype. These data suggest a potential link between APOE 4 genotype and the specific form of frontotemporal dementia found in IBMPFD. The molecular basis of this link bears further investigation. We did not observe an association of frontotemporal dementia and H2 MAPT haplotype. 相似文献
42.
43.
Kerry B. Jedele Virginia V. Michels 《American journal of medical genetics. Part A》1991,39(2):201-203
Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias. 相似文献
44.
Savion-Lemieux T Penhune VB 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2005,161(4):423-431
The present study assessed the effects of amount of practice and length of delay on the learning and retention of a timed motor sequence task. Participants learned to reproduce ten-element visual sequences by tapping in synchrony with the stimulus. Participants were randomly assigned to a varied-practice condition or a varied-delay condition. In the varied-practice condition, participants received either one, three, or six blocks of practice followed by a fixed 4-week delayed-recall. In the varied-delay condition, participants received three blocks of practice followed by a varied delay of either 3 days, or 2, 4, or 8 weeks. Learning was assessed by changes in accuracy, response variance, and percent response asynchrony. Our results showed that amount of practice per se did not affect learning and retention of the task. Rather, distribution of practice over several days was the most important factor affecting learning and retention. We hypothesize that passage of time is essential for a maximum benefit of practice to be gained, as the time delay may allow for consolidation of learning, possibly reflecting plastic changes in motor cortical representations of the skill. With regards to delay, our findings suggest that explicit and motoric components of a motor sequence are likely to be learned and maintained in separate but interacting systems. First, only the longest delay group showed decrements in percent correct, indicating that longer lengths of delay might hinder retrieval of explicit aspects of the task. Second, all groups showed a decrement in percent response asynchrony, suggesting that synchronization may be a more difficult parameter to maintain because it relies heavily on sensorimotor integration. 相似文献
45.
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1). It encodes a putative 890 amino acid transmembrane protein expressed in a wide spectrum of tissues. Recently, a new locus for WS has been located on 4q22-24, providing additional evidence for the genetic heterogeneity of this syndrome. We have studied the presence of WFS1 variants in three groups of individuals: patients with diabetes mellitus, patients with deafness and patients with both conditions. A fourth group of healthy subjects was used as control. We have identified a total of 18 nucleotide changes in the WFS1 gene: three mutations and 15 polymorphisms. Six of these changes were previously undescribed. Four of the 15 polymorphisms studied among the patients group present statistical differences in the allelic and genotypic distribution when comparing affected vs control groups. 相似文献
46.
47.
Camara AA Silva JM Ferriani VP Tobias KR Macedo IS Padovani MA Harsi CM Cardoso MR Chapman MD Arruda E Platts-Mills TA Arruda LK 《The Journal of allergy and clinical immunology》2004,113(3):551-557
BACKGROUND: Risk factors for acute wheezing among children in subtropical areas are largely unknown. OBJECTIVE: To investigate the role of viral infections, allergen sensitization, and exposure to indoor allergens as risk factors for acute wheezing in children 0 to 12 years old. METHODS: One hundred thirty-two children 0 to 12 years of age who sought emergency department care for wheezing and 65 children with no history of wheezing were enrolled in this case-control study. Detection of respiratory syncytial virus antigen, rhinovirus and coronavirus RNA, adenovirus, influenza, and parainfluenza antigens was performed in nasal washes. Total IgE and specific IgE to mites, cockroach, cat, and dog were measured with the CAP system. Major allergens from mites, cockroach, cat, and dog were quantified in dust samples by ELISA. Univariate and multivariate analyses were performed by logistic regression. RESULTS: In children under 2 years of age, infection with respiratory viruses and family history of allergy were independently associated with wheezing (odds ratio, 15.5 and 4.2; P = .0001 and P = .008, respectively). Among children 2 to 12 years old, sensitization to inhalant allergens was the major risk factor for wheezing (odds ratio, 2.7; P = .03). High-level allergen exposure, exposure to tobacco smoke, and lack of breast-feeding showed no association with wheezing. CONCLUSIONS: Some risk factors for wheezing previously identified in temperate climates were present in a subtropical area, including respiratory syncytial virus infection in infants and allergy in children older than 2 years. Rhinovirus was not associated with wheezing and did not appear to be a trigger for asthma exacerbations. 相似文献
48.
Johanna L. Schmidt MPH MGC CGC Amy Pizzino MS CGC Jessica Nicholl MS CGC Allison Foley MMSc CGC Yue Wang PhD FACMG Jill A. Rosenfeld MS CGC Lindsey Mighion MS CGC Lora Bean PhD Cristina da Silva MS Megan T. Cho MS CGC Rebecca Truty PhD John Garcia PhD Virginia Speare PhD Kirsten Blanco BS Zoe Powis MS CGC Grace M. Hobson PhD Susan Kirwin BS Bryan Krock PhD FACMG Hane Lee PhD Joshua L. Deignan PhD Maggie A. Westemeyer MS CGC Ryan L. Subaran PhD Isabelle Thiffault PhD FABMGG Ellen A. Tsai PhD Terry Fang PhD Guy Helman BS Adeline Vanderver MD 《American journal of medical genetics. Part A》2020,182(8):1906-1912
Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening. 相似文献
49.
Clinical,immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study 总被引:5,自引:0,他引:5
Plebani A Soresina A Rondelli R Amato GM Azzari C Cardinale F Cazzola G Consolini R De Mattia D Dell'Erba G Duse M Fiorini M Martino S Martire B Masi M Monafo V Moschese V Notarangelo LD Orlandi P Panei P Pession A Pietrogrande MC Pignata C Quinti I Ragno V Rossi P Sciotto A Stabile A;Italian Pediatric Group for XLA-AIEOP 《Clinical immunology (Orlando, Fla.)》2002,104(3):221-230
A questionnaire-based retrospective clinical and immunological survey was conducted in 73 males with a definite diagnosis of X-linked agammaglobulinemia based on BTK sequence analysis. Forty-four were sporadic and 29 familial cases. At December 2000, the patients' ages ranged from 2 to 33 years; mean age at diagnosis and mean duration of follow-up were 3.5 and 10 years respectively. After the mid-1980s all but 2 were on intravenous immunoglobulin (IVIG) substitution therapy, with residual IgG >500 mg/dl in 94% of the patients at the time of enrollment. Respiratory infections were the most frequent manifestation both prior to diagnosis and over follow-up. Chronic lung disease (CLD) was present in 24 patients, in 15 already at diagnosis and in 9 more by 2000. The cumulative risk to present at diagnosis with CLD increased from 0.17 to 0.40 and 0.78 when the diagnosis was made at the ages of 5, 10, and 15 years respectively. For the 9 patients who developed CLD during follow-up, the duration of follow-up, rather than age at diagnosis; previous administration of intramuscular immunoglobulin; and residual IgG levels had a significant effect on the development of CLD. Chronic sinusitis was present in 35 patients (48%), in 15 already at diagnosis and in 20 by 2000. Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG. 相似文献
50.
Daniel Ka Leung Cheuk Susanna Yuk Han Li Virginia Wong 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2006,(2):123-125
Dopamine transporter (DAT) gene is implicated in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Previously a meta-analysis concluded no association between the variable-number-of-tandem-repeats (VNTR) polymorphisms of the DAT gene and ADHD. However, significant heterogeneity was present among studies and no conclusion can be drawn about the association in any single ethnicity given the small number of studies. There were also conflicting results in Chinese populations. We therefore perform the present study to investigate the association in Chinese children in Hong Kong. In this prospective family-based and case-control study during January to June 2004, we recruited consecutive Chinese children diagnosed with ADHD by DSM-IV criteria, their family members, and sex-matched controls admitted for acute upper respiratory infection, excluding those with perinatal brain insults, mental retardation, or neurological deficits. VNTR polymorphisms of the DAT gene were determined by standard PCR followed by agarose gel electrophoresis. Sixty-four ADHD cases (52 boys, 12 girls), their family members and 64 normal controls were recruited. The 10-repeat allele (92.6%) and the 10/10 repeat genotype (85.2%) were the most prevalent. Both family-based and case-control analyses showed no association between the DAT gene polymorphisms and ADHD (transmission dysequilibrium test: P = 0.99; odds ratio of 10-repeat allele = 0.89 (95%CI 0.35-2.28), P = 0.81; odds ratio of 10/10 repeat genotype = 0.69 (95%CI 0.26-1.84), P = 0.46). We concluded that VNTR polymorphism of the DAT gene is not associated with ADHD in Chinese children, and further studies are needed to clarify the polygenic and environmental influences for pathogenesis of ADHD. 相似文献