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71.
HLA‐G*01:04∼UTR3 Recipient Correlates With Lower Survival and Higher Frequency of Chronic Rejection After Lung Transplantation 下载免费PDF全文
J. Di Cristofaro M. Reynaud‐Gaubert F. Carlini P. Roubertoux A. Loundou A. Basire C. Frassati P. Thomas C. Gomez C. Picard 《American journal of transplantation》2015,15(9):2413-2420
Lung transplantation (LTx) is a valid therapeutic option for selected patients with end‐stage lung disease. Soluble HLA‐G (sHLA‐G) has been associated with increased graft survival and decreased rejection episodes in solid organ transplantation. HLA‐G haplotypes named UTRs, defined by SNPs from both the 5′URR and 3′UTR, have been reported to reliably predict sHLA‐G level. The aim of this retrospective study was to determine the impact of HLA‐G alleles and UTR polymorphism from LTx recipients on anti‐HLA allo‐immunization risk, overall survival and chronic rejection (CLAD). HLA‐G SNPs were genotyped in 124 recipients who underwent LTx from 1996 to 2010 in Marseille, 123 healthy individuals and 26 cystic fibrosis patients not requiring LTx. sHLA‐G levels were measured for 38 LTx patients at D0, M3 and M12 and for 123 healthy donors. HLA‐G*01:06~UTR2 was associated with a worse evolution of cystic fibrosis (p = 0.005) but not of long‐term survival post‐LTx. HLA‐G*01:04~UTR3 haplotype was associated with lower levels of sHLA‐G at D0 and M3 (p = 0.03), impaired long‐term survival (p = 0.001), increased CLAD occurrence (p = 0.03) and the production of de novo donor‐specific antibodies (DSA) at M3 (p = 0.01). This study is the first to show the deleterious association of different HLA‐G alleles and UTRs in LTx. 相似文献
72.
Mohamad El Nabouch Iarolalao Rakotoharinandrasana Alexis Ndayikeza Vronique Picard Simon Kayemba‐Kay's 《Clinical Case Reports》2015,3(7):535-538
Infantile pyknocytosis is a rare cause of neonatal jaundice and hemolytic anemia. We report on two cases in twin girls that were diagnosed on peripheral blood smear reading. Pyknocytosis should be considered in cases of early unexplained severe hemolytic anemia, and systematic peripheral smear review performed. Its management consists of phototherapy and RBC transfusion. 相似文献
73.
74.
Craniofacial bone atrophy in Parry Romberg syndrome demonstrated using a Bayesian hierarchical model
Quentin Hennocq Arianna Facchini Bothild Kverneland Christine Bodemer Arnaud Picard Roman H. Khonsari 《Journal of cranio-maxillo-facial surgery》2019,47(6):909-914
PurposeParry Romberg syndrome (PRS) is a condition characterized by progressive hemifacial atrophy, predominantly affecting the soft tissues. Associated bone retraction is a common clinical feature of PRS but has never been assessed. Here we used 3D imaging and Bayesian statistics in order to demonstrate and quantify bone atrophy in PRS.Materials and methodsTen non-operated patients with PRS (4/10 males) and 12 age-matched controls (7/12 males) were included into the study. The average age at CT-scan was 9.67 ± 4.13 years for PRS patients and 12.5 ± 4.37 years for controls. Soft and hard tissue atrophy levels were quantified using computed tomography scans, based on the distances between surfaces of the affected side and the non-affected contralateral side, both for the skin and the bone. We used a hierarchical Bayesian model with clinical priors in order to assess the relationship between hard and soft tissue atrophies.ResultsPRS patients had significant hard tissue atrophy, and atrophy extents were similar for soft and hard tissues. There was a trend for a correlation between the extent of hard tissue retraction and the extent of soft tissue retraction, and we could not demonstrate that the relationship between hard and soft tissue retractions was different in PRS and controls.ConclusionOur results indicated that bone atrophy was most probably a primary process rather than a phenomenon secondary to soft tissue retraction. We have provided the first assessment of bone atrophy in PRS patients using Bayesian statistics. 相似文献
75.
Martin Picard Jiangwen Zhang Saege Hancock Olga Derbeneva Ryan Golhar Pawel Golik Sean O’Hearn Shawn Levy Prasanth Potluri Maria Lvova Antonio Davila Chun Shi Lin Juan Carlos Perin Eric F. Rappaport Hakon Hakonarson Ian A. Trounce Vincent Procaccio Douglas C. Wallace 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(38):E4033-E4042
76.
Background
Aortic regurgitation is mainly evaluated by trans-thoracic echocardiography using multi-parametric qualitative and semi quantitative tools. All those parameters can fail to meet expectations, resulting in an imperfect diagnostic reliability and assessment of aortic regurgitation severity can be challenging.Objectives
We sought to evaluate feasibility and intra- and inter-observer reproducibility of aortic regurgitant orifice area measured by planimetry with tridimensional trans-esophageal echocardiography on patients with at least grade 2/4 aortic regurgitation.Patients and methods
Consecutive patients with at least grade 2/4 aortic regurgitation measured by trans-thoracic echocardiography and referred for trans-esophageal echocardiography for any reason were included. Planimetric reconstructions of regurgitant orifice area were studied and reproducibility indexes between senior and junior observers were calculated.Results
Twenty-three patients were included in this study. Intra- and inter-observer reproducibility were excellent with an ICC of 0.95 [0.88–0.98], P < 0.0001 and 0.91 [0.79–0.96], P < 0.0001, respectively. Mean length of the measurement was 6.6 ± 0.9 min [CI95% 6.23–7.01].Conclusion
Planimetric measurement of the aortic regurgitant orifice using tridimensional trans-esophageal echocardiography seems to be feasible and has great intra- and inter-observer reproducibility. Reconstruction durations were compatible with a daily use. There is a need now to investigate the reliability of this measurement as compared with the reference technique. 相似文献77.
Elodie Elkaim Christophe Picard Claire Galambrun Vincent Barlogis Anderson Loundou Catherine Curtillet Claire Oudin Isabelle Thuret Hervé Chambost Gérard Michel 《British journal of haematology》2014,166(4):557-565
This study aimed to describe kinetics of complete donor chimerism occurrence (cDC, >99·9% donor) after unrelated cord blood transplantation (UCBT), to identify its predictive factors and its impact on post‐transplant outcome. Ninety‐four children who received single UCBT after a myeloablative conditioning regimen had blood chimerism evaluation at predefined post‐transplant dates, using a real‐time polymerase chain reaction method with 0·1% sensitivity. Cumulative incidence of cDC at 1 year post‐transplantation was 61·8%. Three predictive factors were identified in multivariate analysis: history of malignant disease (P = 0·03), older age (above 2·16 years, the first quartile of age, P = 0·0055) and higher level of cord/recipient human leucocyte antigen mismatch (4/6 vs. 5‐6/6, P < 0·001) increased the probability of post‐transplant cDC. Although graft cell dose had a strong impact on haematological recovery, it did not apparently influence cDC occurrence. Early cDC (i.e. more than 99·9% donor chimerism on days 15–30 post‐transplant) appeared useful to predict engraftment (P = 0·003) as well as acute and chronic graft‐versus‐host disease (GvHD). Severe acute or chronic GvHD never occurred in patients with DC ≤99·9%, suggesting than even minimal residual host haematopoiesis is associated with a very low risk of GvHD after UCBT. 相似文献
78.
Andrey Korshunov Dominik Sturm Marina Ryzhova Volker Hovestadt Marco Gessi David T. W. Jones Marc Remke Paul Northcott Arie Perry Daniel Picard Marc Rosenblum Manila Antonelli Eleonora Aronica Ulrich Schüller Martin Hasselblatt Adelheid Woehrer Olga Zheludkova Ella Kumirova Stephanie Puget Michael D. Taylor Felice Giangaspero V. Peter Collins Andreas von Deimling Peter Lichter Annie Huang Torsten Pietsch Stefan M. Pfister Marcel Kool 《Acta neuropathologica》2014,128(2):279-289
Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies. 相似文献
79.
Li Z Miard S Laplante M Sonenberg N Picard F 《Molecular and cellular endocrinology》2012,358(1):63-68
Insulin-like growth factor binding protein 2 (IGFBP-2) has been implicated in the etiology of several diseases, including the metabolic syndrome. Although IGFBP-2 derives mostly from the liver, recent evidence in mice and humans indicate that aging and obesity are associated with altered IGFBP-2 levels in white adipocytes. The present study was aimed at determining the mechanisms that control IGFBP-2 expression in mature adipocytes. IGFBP-2 mRNA and protein expression in serum-deprived 3T3-L1 adipocytes were twofold increased by acute insulin treatment. Co-treatments with the phosphatidylinositol 3-kinase (PI3K) inhibitor wortmannin or the mammalian target of rapamycin (mTOR) inhibitor rapamycin blunted the effects of insulin. Coherently, IGFBP-2 mRNA levels were robustly increased in adipocytes lacking either TSC2 or 4E-BP1. Insulin triggered the recruitment of CAAT/enhancer binding protein α (C/EBPα) to the IGFBP-2 proximal promoter. These findings suggest that insulin upregulates IGFBP-2 expression through a PI3K/mTOR/C/EBPα pathway in white adipocytes. 相似文献