全文获取类型
收费全文 | 513篇 |
免费 | 15篇 |
国内免费 | 34篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 17篇 |
妇产科学 | 1篇 |
基础医学 | 49篇 |
口腔科学 | 8篇 |
临床医学 | 50篇 |
内科学 | 52篇 |
皮肤病学 | 15篇 |
神经病学 | 5篇 |
特种医学 | 170篇 |
外科学 | 79篇 |
综合类 | 19篇 |
预防医学 | 37篇 |
眼科学 | 11篇 |
药学 | 29篇 |
中国医学 | 1篇 |
肿瘤学 | 18篇 |
出版年
2022年 | 2篇 |
2019年 | 3篇 |
2018年 | 7篇 |
2017年 | 5篇 |
2016年 | 3篇 |
2015年 | 11篇 |
2014年 | 14篇 |
2013年 | 8篇 |
2012年 | 6篇 |
2011年 | 13篇 |
2010年 | 19篇 |
2009年 | 36篇 |
2008年 | 23篇 |
2007年 | 29篇 |
2006年 | 30篇 |
2005年 | 28篇 |
2004年 | 14篇 |
2003年 | 13篇 |
2002年 | 13篇 |
2001年 | 17篇 |
2000年 | 7篇 |
1999年 | 19篇 |
1998年 | 29篇 |
1997年 | 38篇 |
1996年 | 21篇 |
1995年 | 14篇 |
1994年 | 10篇 |
1993年 | 14篇 |
1992年 | 7篇 |
1991年 | 9篇 |
1990年 | 7篇 |
1989年 | 14篇 |
1988年 | 21篇 |
1987年 | 9篇 |
1986年 | 9篇 |
1985年 | 7篇 |
1984年 | 1篇 |
1983年 | 2篇 |
1982年 | 2篇 |
1981年 | 6篇 |
1980年 | 1篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1977年 | 3篇 |
1976年 | 1篇 |
1975年 | 4篇 |
1974年 | 2篇 |
1973年 | 3篇 |
1972年 | 1篇 |
1970年 | 1篇 |
排序方式: 共有562条查询结果,搜索用时 46 毫秒
11.
12.
Viviane D Lima Patricia Kretz Anita Palepu Simon Bonner Thomas Kerr David Moore Mark Daniel Julio SG Montaner Robert S Hogg 《AIDS research and therapy》2006,3(1):14-9
Background
Although the impact of Aboriginal status on HIV incidence, HIV disease progression, and access to treatment has been investigated previously, little is known about the relationship between Aboriginal ethnicity and outcomes associated with highly active antiretroviral therapy (HAART). We undertook the present analysis to determine if Aboriginal and non-Aboriginal persons respond differently to HAART by measuring HIV plasma viral load response, CD4 cell response and time to all-cause mortality. 相似文献13.
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region 总被引:10,自引:0,他引:10
Akarsu AN; Turacli ME; Aktan SG; Barsoum-Homsy M; Chevrette L; Sayli BS; Sarfarazi M 《Human molecular genetics》1996,5(8):1199-1203
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that
occurs for 0.01-0.04% of blind people. In the majority of familial cases
reported so far, this condition is inherited as an autosomal recessive
trait. We have recently used a group of 17 GLC3 families with a minimum of
two affected offspring and consanguinity in most of the parental generation
and mapped the first GLC3 locus (GLC3A) to the 2p21 region. Six families
did not show any linkage to the GLC3A locus and thus provided evidence for
genetic heterogeneity of this disorder. A total of eight families unlinked
to the 2p21 region were used to search for the chromosomal location of the
second GLC3 locus. Herein, we describe mapping of a new locus (designated
GLC3B) for primary congenital glaucoma to the short arm of chromosome 1
(1p36.2-36.1) that is situated centromeric to the neuroblastoma and
Charcot-Marie-Tooth type 2A (CMT2A) loci. A total of 17 DNA markers were
genotyped from this region of chromosome 1. Four families showed no
recombination with the two markers D1S2834 and D1S402 with a maximum lod
score of 4.510 and 4.157 respectively. Pairwise and multipoint linkage
analysis and inspection of the haplotypes revealed that the remaining four
families are not linked to this part of chromosome 1, thus providing
further evidence that at least one more locus for the autosomal recessive
form of GLC3 must exist in the genome. Based on the recombination events,
the overall linkage map of this region is: tel-D1S1192-D1S1635-D1S1193 -
(D1S1597/-D1S489/D1S228)- [GLC3B/D1S2834/D1S402] - (D1S1176/D1S507/D1S407)
- D1S2728-(MFAP2/D1S170) - D1S1368 - D1S436- D1S1592-cen.
相似文献
14.
15.
16.
17.
18.
Decreased expression of phospholipase C-beta 2 isozyme in human platelets with impaired function 总被引:4,自引:4,他引:4
Platelets from a patient with a mild inherited bleeding disorder and abnormal platelet aggregation and secretion show reduced generation of inositol 1,4,5-trisphosphate, mobilization of intracellular Ca2+, and phosphorylation of pleckstrin in response to several G protein mediated agonists, suggesting a possible defect at the level of phospholipase C (PLC) activation (see accompanying report). A procedure was developed that allows quantitation of platelet PLC isozymes. After fractionation of platelet extracts by high-performance liquid chromatography, 7 out of 10 known PLC isoforms were detected by immunoblot analysis. The amount of these isoforms in normal platelets decreased in the order PLC- gamma 2 > PLC-beta 2 > PLC-beta 3 > PLC-beta 1 > PLC-gamma 1 > PLC- delta 1 > PLC-beta 4. Compared with normal platelets, platelets from the patient contained approximately one-third the amount of PLC-beta 2, whereas PLC-beta 4 was increased threefold. These results suggest that the impaired platelet function in the patient in response to multiple G protein mediated agonists is attributable to a deficiency of PLC-beta 2. They document for the first time a specific PLC isozyme deficiency in human platelets and provide an unique opportunity to understand the role of different PLC isozymes in normal platelet function. 相似文献
19.
SG Lindquist M Duno M Batbayli A Puschmann H Braendgaard S Mardosiene K Svenstrup LH Pinborg K Vestergaard LE Hjermind J Stokholm BB Andersen P Johannsen JE Nielsen 《Clinical genetics》2013,83(3):279-283
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene. 相似文献
20.
Ahmed Z Elmaadawi Peter S Jensen L Eugene Arnold Brooke SG Molina Lily Hechtman Howard B Abikoff Stephen P Hinshaw Jeffrey H Newcorn Laurence Lee Greenhill James M Swanson Cathryn A Galanter 《World Journal of Psychiatry》2015,5(4):412-424
AIM: To determine the prevalence of bipolar disorder (BD) and sub-threshold symptoms in
children with attention deficit hyperactivity disorder (ADHD) through 14 years’
follow-up, when participants were between 21-24 years old.METHODS: First, we examined rates of BD type I and II diagnoses in youth
participating in the NIMH-funded Multimodal Treatment Study of ADHD (MTA). We used the
diagnostic interview schedule for children (DISC), administered to both parents (DISC-P) and
youth (DISCY). We compared the MTA study subjects with ADHD (n = 579) to a
local normative comparison group (LNCG, n = 289) at 4 different assessment
points: 6, 8, 12, and 14 years of follow-ups. To evaluate the bipolar variants, we compared
total symptom counts (TSC) of DSM manic and hypomanic symptoms that were generated by DISC in
ADHD and LNCG subjects. Then we sub-divided the TSC into pathognomonic manic (PM) and
non-specific manic (NSM) symptoms. We compared the PM and NSM in ADHD and LNCG at each
assessment point and over time. We also evaluated the irritability as category A2 manic symptom
in both groups and over time. Finally, we studied the irritability symptom in correlation with
PM and NSM in ADHD and LNCG subjects.RESULTS: DISC-generated BD diagnosis did not differ significantly in rates between ADHD
(1.89%) and LNCG 1.38%). Interestingly, no participant met BD diagnosis more than once in the 4
assessment points in 14 years. However, on the symptom level, ADHD subjects reported
significantly higher mean TSC scores: ADHD 3.0; LNCG 1.7; P < 0.001. ADHD
status was associated with higher mean NSM: ADHD 2.0 vs LNCG 1.1;
P < 0.0001. Also, ADHD subjects had higher PM symptoms than LNCG, with PM
means over all time points of 1.3 ADHD; 0.9 LNCG; P = 0.0001. Examining both
NSM and PM, ADHD status associated with greater NSM than PM. However, Over 14 years, the NSM
symptoms declined and changed to PM over time (df 3, 2523; F = 20.1; P <
0.0001). Finally, Irritability (BD DSM criterion-A2) rates were significantly higher in ADHD
than LNCG (χ2 = 122.2, P < 0.0001), but irritability was
associated more strongly with NSM than PM (df 3, 2538; F = 43.2; P <
0.0001).CONCLUSION: Individuals with ADHD do not appear to be at significantly greater risk for
developing BD, but do show higher rates of BD symptoms, especially NSM. The greater linkage of
irritability to NSM than to PM suggests caution when making BD diagnoses based on irritability
alone as one of 2 (A-level) symptoms for BD diagnosis, particularly in view of its frequent
presentation with other psychopathologies. 相似文献