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1.
V Aerra M Kuduvalli AN Moloto AK Srinivasan AD Grayson BM Fabri AY Oo 《Journal of cardiothoracic surgery》2006,1(1):6-5
Background
Atrial fibrillation can occur in up to 40% of patients undergoing coronary surgery. 相似文献2.
3.
BACKGROUND: There are obvious advantages to increasing donor retention. However, for reasons of blood safety, certain donors may, in fact, be more desirable to retain than others. “Safe” donors are defined as those who provided a blood donation that was negative on all laboratory screening tests and who subsequently reported no behavioral risks in response to an anonymous survey. This study identifies the most important factors affecting the intention of “safe” donors to provide another donation. STUDY DESIGN AND METHODS: An anonymous survey asking about donation history, sexual history, injecting drug use, and recent donation experience was mailed to 50,162 randomly selected allogeneic donors (including directed donors) who gave blood from April through July or from October through December 1993 at one of the five United States blood centers participating in the Retrovirus Epidemiology Donor Study. Before mailing, questionnaires were coded to designate donors with nonreactive laboratory screening tests at their most recent donation. RESULTS: A total of 34,726 donors (69%) responded, with substantially higher response among repeat donors. According to reported intentions only, the vast majority of “safe” donors indicated a high likelihood of donating again within the next 12 months. Only 3.4 percent reported a low likelihood of donating again. A comparison of those likely to return and those unlikely to return reveals significant differences in demographics and in ratings of the donation experience. A higher proportion of those unlikely to return were first-time donors, minority-group donors, and donors with less education. The highest projected loss among “safe” donors was seen for those who gave a fair to poor assessment of their treatment by blood center staff or of their physical well-being during or after donating. CONCLUSION: These data suggest that efforts to improve donors' perceptions of their donation experience, as well as attention to the physical effects of blood donation, may aid in the retention of both repeat and first-time donors. 相似文献
4.
5.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
6.
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe 总被引:6,自引:0,他引:6
Libert F; Cochaux P; Beckman G; Samson M; Aksenova M; Cao A; Czeizel A; Claustres M; de la Rua C; Ferrari M; Ferrec C; Glover G; Grinde B; Guran S; Kucinskas V; Lavinha J; Mercier B; Ogur G; Peltonen L; Rosatelli C; Schwartz M; Spitsyn V; Timar L; Beckman L; Vassart G 《Human molecular genetics》1998,7(3):399-406
The chemokine receptor CCR5 is encoded by the CMKBR5 gene located on the
p21.3 region of human chromosome 3, and constitutes the major co- receptor
for the macrophage-tropic strains of HIV-1. A mutant allele of the CCR5
gene, Delta ccr5 , was shown to provide to homozygotes with a strong
resistance against infection by HIV. The frequency of the Delta ccr5 allele
was investigated in 18 European populations. A North to South gradient was
found, with the highest allele frequencies in Finnish and Mordvinian
populations (16%), and the lowest in Sardinia (4%). Highly polymorphic
microsatellites (IRI3.1, D3S4579 and IRI3.2, D3S4580 ) located respectively
11 kb upstream and 68 kb downstream of the CCR5 gene deletion were used to
determine the haplotype of the chromosomes carrying the Delta ccr5 variant.
A strong linkage disequilibrium was found between Delta ccr5 and specific
alleles of the IRI3.1 and IRI3.2 microsatellites: >95% of the Delta ccr5
chromosomes carried the IRI3.1-0 allele, while 88% carried the IRI3.2-0
allele. These alleles were found respectively in only 2 or 1.5% of the
chromosomes carrying a wild-type CCR5 gene. From these data, it was
inferred that most, if not all Delta ccr5 alleles originate from a single
mutation event, and that this mutation event probably took place a few
thousand years ago in Northeastern Europe. The high frequency of the Delta
ccr5 allele in Caucasian populations cannot be explained easily by random
genetic drift, suggesting that a selection advantage is or has been
associated with homo- or heterozygous carriers of the Delta ccr5 allele.
相似文献
7.
Oxidation of cytosolic proteins and expression of creatine kinase BB in frontal lobe in different neurodegenerative disorders 总被引:1,自引:0,他引:1
Aksenova MV Aksenov MY Payne RM Trojanowski JQ Schmidt ML Carney JM Butterfield DA Markesbery WR 《Dementia and geriatric cognitive disorders》1999,10(2):158-165
The presence of the biomarkers of oxidative damage, protein carbonyl formation and the inactivation of oxidatively sensitive brain creatine kinase (CK BB, cytosolic isoform), were studied in frontal lobe autopsy specimens obtained from patients with different age-related neurodegenerative diseases: Alzheimer's disease (AD), Pick's disease (PkD), diffuse Lewy body disease (DLBD), Parkinson's disease (PD), and age-matched control subjects. The CK activity was significantly reduced in the frontal lobe of AD, PkD and DLBD subjects, and CK BB-specific mRNA was significantly reduced in AD and DLBD. Protein carbonyl content was significantly increased in AD, PkD and DLBD. The results of this study confirm that the presence of biomarkers of oxidative damage is related to the presence of histopathological markers of neurodegeneration. Our data suggest that oxidative damage contributes to the development of the symptoms of frontal dysfunction in AD, PkD and DLBD. The development of frontal dysfunction in idiopathic PD might be secondary to oxidative damage and neuronal loss primarily located in the nigrostriatal system. The results of CK BB expression analysis demonstrate that the loss of the isoenzyme in different neurodegenerative diseases is likely the consequence of its posttranslational modification, possibly oxidative damage. Changes in CK BB expression may be an early indicator of oxidative stress in neurons. 相似文献
8.
Tatiana S. Demina Anastasia S. Kuryanova Nadejda A. Aksenova Andrey G. Shubnyy Tatiana N. Popyrina Yaroslav V. Sokovikov Elena V. Istranova Pavel L. Ivanov Peter S. Timashev Tatiana A. Akopova 《RSC advances》2019,9(64):37652
Graft-copolymers based on bioresorbable synthetic (oligo-/polylactide) and natural (chitosan and collagen/gelatin) components were synthesized through solid-state reactive co-extrusion and used for fabrication of fibrous non-woven mats via the electrospinning technique. The effect of the macromolecular features of the initial components on the copolymer characteristics was evaluated using FTIR-spectroscopy, differential scanning calorimetry and elemental analysis. Dynamic light scattering analysis showed that the copolymers have a tendency to form stable ultra-fine dispersions with a mean size of macromolecular aggregates of 150 nm within chlorinated solvents. The copolymer-containing non-woven fibrous mats were fabricated via an electrospinning procedure using chloroform as a solvent. An effect of the copolymer composition on the casting solution''s viscosity, conductivity and surface tension was evaluated. Scanning electron microscopy showed that the obtained mats consist of randomly distributed fibers with a mean size of ∼5 μm and a more complex morphology than mats fabricated from neat polylactide. The proposed mechanochemical approach to obtain hybrid copolymeric compositions differs from typical liquid-phase methods in terms of high efficiency, simplicity and cleanness.Amphiphilic chitosan-g-oligo/polylactide graft-copolymers were synthesized through solid-state reactive co-extrusion and used for fabrication of fibrous non-woven mats via the electrospinning technique using chloroform as a solvent. 相似文献
9.
Sergio Daga Jie Ding Constantinos Deltas Judy Savige Beata S. Lipska-Zitkiewicz Julia Hoefele Frances Flinter Daniel P. Gale Marina Aksenova Hirofumi Kai Laura Perin Moumita Barua Roser Torra Jeff H. Miner Laura Massella Danica Galei Ljubanovi Rachel Lennon Andr B. Weinstock Bertrand Knebelmann Agne Cerkauskaite Susie Gear Oliver Gross A. Neil Turner Margherita Baldassarri Anna Maria Pinto Alessandra Renieri 《European journal of human genetics : EJHG》2022,30(5):507
10.