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51.
Hermans C 《Archives of gynecology and obstetrics》2007,276(3):271-276
Backgroud Hereditary angioedema (HAE) is a rare genetic disorder caused by a deficiency of the plasma protein C1 inhibitor (C1-INH).
HAE is characterised by the onset of angioedema, which may develop in one or several organs, and may last from a few hours
to several days. Oedema of the upper airway can be life-threatening. As a result of hormonal changes, some women experience
more frequent angioedema attacks during pregnancy. During pregnancy, antifibrinolytic agents should only be used with caution,
and attenuated androgens are contraindicated; therefore, replacement therapy with C1-INH concentrate represents one of few
therapeutic options, but it is not widely documented.
Case study We report the first case study of the successful management with regular infusions of C1-INH concentrate, of two successive
pregnancies in a patient with HAE. During the second half of the first pregnancy, C1-INH was administered on demand at home.
For the second pregnancy, on demand treatment was intensified to prophylactic therapy, with once or twice weekly infusions
from the middle of the second trimester in order to efficiently control the frequent attacks.
Conclusions This report illustrates that HAE can be successfully managed during pregnancy with C1-INH infusions at home. Since the number
of crises may vary between pregnancies, the treatment regimen must be adapted to the patient’s need. 相似文献
52.
Vardy MD Brodman M Olivera CK Zhou HS Flisser AJ Bercik RS 《American journal of obstetrics and gynecology》2007,197(1):104-104.e8
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Elise Roger Cedric Pichat Laurent Torlay Olivier David Felix Renard Sonja Banjac Arnaud Atty Lorella Minotti Laurent Lamalle Philippe Kahane Monica Baciu 《Human brain mapping》2020,41(3):779-796
Mesial temporal lobe epilepsy (mTLE) affects the brain networks at several levels and patients suffering from mTLE experience cognitive impairment for language and memory. Considering the importance of language and memory reorganization in this condition, the present study explores changes of the embedded language‐and‐memory network (LMN) in terms of functional connectivity (FC) at rest, as measured with functional MRI. We also evaluate the cognitive efficiency of the reorganization, that is, whether or not the reorganizations support or allow the maintenance of optimal cognitive functioning despite the seizure‐related damage. Data from 37 patients presenting unifocal mTLE were analyzed and compared to 48 healthy volunteers in terms of LMN‐FC using two methods: pairwise correlations (region of interest [ROI]‐to‐ROI) and graph theory. The cognitive efficiency of the LMN‐FC reorganization was measured using correlations between FC parameters and language and memory scores. Our findings revealed a large perturbation of the LMN hubs in patients. We observed a hyperconnectivity of limbic areas near the dysfunctional hippocampus and mainly a hypoconnectivity for several cortical regions remote from the dysfunctional hippocampus. The loss of FC was more important in left mTLE (L‐mTLE) than in right (R‐mTLE) patients. The LMN‐FC reorganization may not be always compensatory and not always useful for patients as it may be associated with lower cognitive performance. We discuss the different connectivity patterns obtained and conclude that interpretation of FC changes in relation to neuropsychological scores is important to determine cognitive efficiency, suggesting the concept of “connectome” would gain to be associated with a “cognitome” concept. 相似文献
55.
Cedric Huchuan Xia Zongming Ma Zaixu Cui Danilo Bzdok Bertrand Thirion Danielle S. Bassett Theodore D. Satterthwaite Russell T. Shinohara Daniela M. Witten 《Human brain mapping》2020,41(10):2553-2566
Brain networks are increasingly characterized at different scales, including summary statistics, community connectivity, and individual edges. While research relating brain networks to behavioral measurements has yielded many insights into brain‐phenotype relationships, common analytical approaches only consider network information at a single scale. Here, we designed, implemented, and deployed Multi‐Scale Network Regression (MSNR), a penalized multivariate approach for modeling brain networks that explicitly respects both edge‐ and community‐level information by assuming a low rank and sparse structure, both encouraging less complex and more interpretable modeling. Capitalizing on a large neuroimaging cohort (n = 1, 051) , we demonstrate that MSNR recapitulates interpretable and statistically significant connectivity patterns associated with brain development, sex differences, and motion‐related artifacts. Compared to single‐scale methods, MSNR achieves a balance between prediction performance and model complexity, with improved interpretability. Together, by jointly exploiting both edge‐ and community‐level information, MSNR has the potential to yield novel insights into brain‐behavior relationships. 相似文献
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Cedric Ghevaert Angela Rankin Elly Huiskes Leendert Porcelijn Kaija Javela Riitta Kekomaki Tamam Bakchoul Sentot Santoso Sarah Nutland Deborah J. Smyth Graham A. Smith Simon McBride Nicholas A. Watkins Willem H. Ouwehand 《Transfusion》2009,49(10):2084-2089
BACKGROUND: Maternal alloantibodies against the five common human platelet antigen (HPA) systems (HPA-1 to -3, -5, and -15) are found in only 20% of cases referred for fetal and neonatal thrombocytopenia (FMAIT) investigations. The question asked was whether mismatches for the remaining 11 low-frequency HPAs (HPA-4 and -6bw to -17bw) might in part explain the remaining 80% of cases.
STUDY DESIGN AND METHODS: A total of 1054 paternal DNA samples from referred FMAIT cases (among which 223 cases where antibodies against a common HPA were found) were genotyped for 11 low-frequency HPAs as well as a recently discovered polymorphism ( ITGA2B -C2320T). The initial genotyping was carried out by TaqMan and potential heterozygotes were confirmed by DNA sequencing. Clinical and serologic data were collected for each case with a heterozygote father.
RESULTS: In total, eight heterozygous fathers were identified: four for HPA-6w, one each for HPA-10w and -11w, and two for HPA-12w. Maternal antibodies against the corresponding antigen were identified in four of the eight cases. In two of these cases, antibodies against HPA-1a and HPA-1b were also found.
CONCLUSION: It was concluded that the minor alleles of HPA-4 and -6bw to -17bw are exceptionally rare in the Caucasian population and therefore do not explain the large number of FMAIT referrals which test negative for the common HPA antibodies. 相似文献
STUDY DESIGN AND METHODS: A total of 1054 paternal DNA samples from referred FMAIT cases (among which 223 cases where antibodies against a common HPA were found) were genotyped for 11 low-frequency HPAs as well as a recently discovered polymorphism ( ITGA2B -C2320T). The initial genotyping was carried out by TaqMan and potential heterozygotes were confirmed by DNA sequencing. Clinical and serologic data were collected for each case with a heterozygote father.
RESULTS: In total, eight heterozygous fathers were identified: four for HPA-6w, one each for HPA-10w and -11w, and two for HPA-12w. Maternal antibodies against the corresponding antigen were identified in four of the eight cases. In two of these cases, antibodies against HPA-1a and HPA-1b were also found.
CONCLUSION: It was concluded that the minor alleles of HPA-4 and -6bw to -17bw are exceptionally rare in the Caucasian population and therefore do not explain the large number of FMAIT referrals which test negative for the common HPA antibodies. 相似文献