全文获取类型
收费全文 | 510篇 |
免费 | 36篇 |
国内免费 | 27篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 30篇 |
妇产科学 | 6篇 |
基础医学 | 81篇 |
口腔科学 | 77篇 |
临床医学 | 72篇 |
内科学 | 99篇 |
皮肤病学 | 9篇 |
神经病学 | 34篇 |
特种医学 | 37篇 |
外科学 | 30篇 |
综合类 | 26篇 |
一般理论 | 1篇 |
预防医学 | 22篇 |
眼科学 | 1篇 |
药学 | 22篇 |
中国医学 | 1篇 |
肿瘤学 | 24篇 |
出版年
2023年 | 3篇 |
2022年 | 4篇 |
2021年 | 7篇 |
2020年 | 7篇 |
2019年 | 14篇 |
2018年 | 17篇 |
2017年 | 7篇 |
2016年 | 11篇 |
2015年 | 12篇 |
2014年 | 15篇 |
2013年 | 16篇 |
2012年 | 10篇 |
2011年 | 9篇 |
2010年 | 14篇 |
2009年 | 15篇 |
2008年 | 14篇 |
2007年 | 13篇 |
2006年 | 11篇 |
2005年 | 17篇 |
2004年 | 12篇 |
2003年 | 11篇 |
2002年 | 10篇 |
2001年 | 16篇 |
2000年 | 16篇 |
1999年 | 15篇 |
1998年 | 22篇 |
1997年 | 21篇 |
1996年 | 20篇 |
1995年 | 14篇 |
1994年 | 15篇 |
1993年 | 3篇 |
1992年 | 10篇 |
1991年 | 18篇 |
1990年 | 15篇 |
1989年 | 21篇 |
1988年 | 14篇 |
1987年 | 14篇 |
1986年 | 13篇 |
1985年 | 14篇 |
1984年 | 3篇 |
1983年 | 13篇 |
1982年 | 3篇 |
1981年 | 5篇 |
1979年 | 7篇 |
1978年 | 5篇 |
1977年 | 5篇 |
1976年 | 5篇 |
1975年 | 3篇 |
1969年 | 3篇 |
1968年 | 2篇 |
排序方式: 共有573条查询结果,搜索用时 15 毫秒
1.
Jennifer J. Schoch Reesa L. Monir Kerrie G. Satcher Jessica Harris Eric Triplett Josef Neu 《Pediatric dermatology》2019,36(5):574-580
Recent focus on the neonatal intestinal microbiome has advanced our knowledge of the complex interplay between the intestinal barrier, the developing immune system, and commensal and pathogenic organisms. Despite the parallel role of the infant skin in serving as both a barrier and an interface for priming the immune system, large gaps exist in our understanding of the infantile cutaneous microbiome. The skin microbiome changes and matures throughout infancy, becoming more diverse and developing the site specificity known to exist in adults. Delivery method initially determines the composition of the cutaneous microbiome, though this impact appears transient. Cutaneous microbes play a critical role in immune system development, particularly during the neonatal period, and microbes and immune cells have closely intertwined, reciprocal effects. The unique structure of newborn skin influences cutaneous microbial colonization and the development of dermatologic pathology. The development of the infantile skin barrier and cutaneous microbiome contributes to future skin pathology. Atopic dermatitis flares and seborrheic dermatitis have been linked to dysbiosis, while erythema toxicum neonatorum is an immune response to the establishment of normal bacterial skin flora. Physicians who care for infants should be aware of the impact of the infantile skin microbiome and its role in the development of pathology. A better understanding of the origin and evolution of the skin microbiome will lead to more effective prevention and treatment of pediatric skin disease. 相似文献
2.
3.
4.
Factor VIII assays. Assessment of variables 总被引:1,自引:0,他引:1
J T Brandt D A Triplett K Musgrave C Arkin E G Bovill F V Lucas W A Rock 《Archives of pathology & laboratory medicine》1988,112(1):7-12
Factor VIII assays are the most common specific coagulation factor assay performed in the United States. Interlaboratory proficiency studies have documented persistent problems with variation in results between laboratories. The Coagulation Resource Committee of the College of American Pathologists conducted a workshop to analyze variables that may affect performance of the one-stage factor assay. The results indicate that accuracy of the assay can be improved by uniform standardization of reference plasma samples and that reproducibility can be enhanced through appropriate choice of reagents and instruments. Optimizing performance of this assay should lead to more reproducible interlaboratory results. 相似文献
5.
6.
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH) 总被引:12,自引:0,他引:12
des Portes V; Francis F; Pinard JM; Desguerre I; Moutard ML; Snoeck I; Meiners LC; Capron F; Cusmai R; Ricci S; Motte J; Echenne B; Ponsot G; Dulac O; Chelly J; Beldjord C 《Human molecular genetics》1998,7(7):1063-1070
Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical
dysgenesis disorder associated with a defect in neuronal migration.
Clinical manifestations are epilepsy and mental retardation. This disorder,
which mainly affects females, can be inherited in a single pedigree with
lissencephaly, a more severe disease which affects the male individuals.
This clinical entity has been described as X- SCLH/LIS syndrome. Recently
we have demonstrated that the doublecortin gene, which is localized on the
X chromosome, is implicated in this disorder. We have now performed a
systematic mutation analysis of doublecortin in 11 unrelated females with
SCLH (one familial and 10 sporadic cases) and have identified mutations in
10/11 cases. The sequence differences include nonsense, splice site and
missense mutations and these were found throughout the gene. These results
provide strong evidence that loss of function of doublecortin is the major
cause of SCLH. The absence of phenotype-genotype correlations suggests that
X-inactivation patterns of neuronal precursor cells are likely to
contribute to the variable clinical severity of this disorder in females.
相似文献
7.
8.
Stein TP; Oram-Smith JC; Leskiw MJ; Wallace HW; Long LC; Leonard JM 《The American journal of physiology》1976,230(5):1321-1325
9.
Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA 总被引:2,自引:2,他引:2
Rozmahel R; Gyomorey K; Plyte S; Nguyen V; Wilschanski M; Durie P; Bear CE; Tsui LC 《Human molecular genetics》1997,6(7):1153-1162
We have used a mouse model to study the ability of human CFTR to correct
the defect in mice deficient of the endogenous protein. In this model,
expression of the endogenous Cftr gene was disrupted and replaced with a
human CFTR cDNA by a gene targeted 'knock-in' event. Animals homozygous for
the gene replacement failed to show neither improved intestinal pathology
nor survival when compared to mice completely lacking CFTR. RNA analyses
showed that the human CFTR sequence was transcribed from the targeted
allele in the respiratory and intestinal epithelial cells. Furthermore, in
vivo potential difference measurements showed that basal CFTR chloride
channel activity was present in the apical membranes of both nasal and
rectal epithelial cells in all homozygous knock-in animals examined. Ussing
chamber studies showed, however, that the cAMP-mediated chloride channel
function was impaired in the intestinal tract among the majority of
homozygous knock-in animals. Hence, failure to correct the intestinal
pathology associated with loss of endogenous CFTR was related to
inefficient functional expression of the human protein in mice. These
results emphasize the need to understand the tissue- specific expression
and regulation of CFTR function when animal models are used in gene therapy
studies.
相似文献
10.
Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases 总被引:4,自引:5,他引:4
Preimplantation genetic diagnosis was performed in 61 day 3 embryos
obtained by in-vitro fertilization from seven patient carriers of
haemophilia, Marfan's syndrome, Bloch-Sulzemberg syndrome (incontinentia
pigmentosa) or X chromosome-linked immune deficiency, retinitis pigmentosa,
and FG syndrome, which is characterized by mental retardation and
hypotonia. After multiplex polymerase chain reaction, 16 embryos were
diagnosed as being unaffected, and these were transferred to the uterus on
the following day (day 4). Of these embryos, six (37.5%) implanted,
resulting in the delivery of a singleton and a twin pregnancy, a late
second trimester miscarriage (twins at week 20) and a first trimester
miscarriage at week 8. All the diagnoses were confirmed by amniocentesis.
We report for the first time a late day 4 transfer of biopsied human
embryos undergoing preimplantation genetic diagnosis. This transfer
schedule allows an extra day to perform genetic analyses on single
blastomeres and to monitor any adverse effect of the biopsy procedure.
相似文献