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11.
Natacha Martin Anne Bergougnoux Nesrine Baatallah Benoit Chevalier Jessica Varilh David Baux Bruno Costes Pascale Fanen Caroline Raynal Isabelle Sermet-Gaudelus Emmanuelle Girodon Magali Taulan-Cadars Alexandre Hinzpeter 《Journal of cystic fibrosis》2021,20(3):464-472
BackgroundMinigenes and in silico prediction tools are commonly used to assess the impact on splicing of CFTR variants. Exon skipping is often neglected though it could impact the efficacy of targeted therapies. The aim of the study was to identify exon skipping associated with CFTR variants and to evaluate in silico predictions of seven freely available software.MethodsCFTR basal exon skipping was evaluated on endogenous mRNA extracted from non-CF nasal cells and on two CFTR minigene banks. In silico tools and minigene systems were used to evaluate the impact of CFTR exonic variants on exon skipping.ResultsData showed that out of 65 CFTR variants tested, 26 enhanced exon skipping and that in silico prediction efficacy was of 50%-66%. Some in silico tools presented predictions with a bias towards the occurrence of splicing events while others presented a bias towards the absence of splicing events (non-detection including true negatives and false negatives). Classification of exons depending on their basal exon skipping level increased prediction rates up to 80%.ConclusionThis study indicates that taking basal exon skipping into account could orientate the choice of the in silico tools to improve prediction rates. It also highlights the need to validate effects using in vitro assays or mRNA studies in patients. Eventually, it shows that variant-guided therapy should also target exon skipping associated with variants. 相似文献
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Les points chauds de l’actualité en 2017. Une sélection du comité de rédaction du Bulletin du Cancer
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Piotr Bartochowski Nathalie Gayrard Stphanie Bornes Cline Druart Angel Argils Magali Cordaillat-Simmons Flore Duranton 《Toxins》2022,14(9)
Chronic kidney disease (CKD) is an incurable disease in which renal function gradually declines, resulting in no noticeable symptoms during the early stages and a life-threatening disorder in the latest stage. The changes that accompany renal failure are likely to influence the gut microbiota, or the ecosystem of micro-organisms resident in the intestine. Altered gut microbiota can display metabolic changes and become harmful to the host. To study the gut–kidney axis in vivo, animal models should ideally reproduce the disorders affecting both the host and the gut microbiota. Murine models of CKD, but not dog, manifest slowed gut transit, similarly to patient. Animal models of CKD also reproduce altered intestinal barrier function, as well as the resulting leaky gut syndrome and bacterial translocation. CKD animal models replicate metabolic but not compositional changes in the gut microbiota. Researchers investigating the gut–kidney axis should pay attention to the selection of the animal model (disease induction method, species) and the setting of the experimental design (control group, sterilization method, individually ventilated cages) that have been shown to influence gut microbiota. 相似文献
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Marine Gaudry Pierre-Antoine Barral Arnaud Blanchard Sylvie Palazzolo Sonia Bolomey Virgile Omnes Mariangela De Masi Magali Carcopino-Tusoli Olivier Meyrignac Hervé Rousseau Alexis Jacquier Reda Hassen-Khodja Alessandra Bura-Rivière Jean-Michel Bartoli Stéphanie Gentile Philippe Piquet Laurence Bal 《European journal of vascular and endovascular surgery》2021,61(6):930-937
18.
Thierry Bautrant Michel Grino Corinne Peloso Frédéric Schiettecatte Magali Planelles Charles Oliver Caroline Franqui 《Journal of the American Medical Directors Association》2019,20(3):377-381
Objectives
To determine whether environmental rearrangements of the long-term care nursing home can affect disruptive behavioral and psychological symptoms of dementia (BPSD) in residents with dementia.Design
Prospective 6-month study.Setting
The study was conducted before (phase 1) and after (phase 2) environmental rearrangements [skylike ceiling tiles in part of the shared premises, progressive decrease of the illuminance at night together with soothing streaming music, reinforcement of the illuminance during the day, walls painted in light beige, oversized clocks in corridors, and night team clothes color (dark blue) different from that of the day team (sky blue)].Participants
All of the patients (n = 19) of the protected unit were included in the study. They were aged 65 years or older and had an estimated life expectancy above 3 months.Measures
Number and duration of disruptive BPSD were systematically collected and analyzed over 24 hours or during late hours (6:00-12:00 pm) during each 3-month period.Results
There was no significant change in the patients' dependency, risk of fall, cognitive or depression indexes, or treatment between phase 1 and 2. Agitation/aggression and screaming were observed mainly outside the late hours as opposed to wandering episodes that were noticed essentially within the late hours. The number of patients showing wandering was significantly lower over 24 hours during phase 2. The number of agitation/physical aggression, wandering, and screaming and the mean duration of wandering episodes were significantly (P = .039, .002, .025, and .026 respectively) decreased over 24 hours following environmental rearrangements. Similarly, a significant reduction in the number and mean duration of wandering was noticed during the late hours (P = .031 and .007, respectively).Conclusions
Our study demonstrates that BPSD prevalence can be reduced following plain environmental rearrangements aimed at improving spatial and temporal orientation. 相似文献19.
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Flow cytometry minimal residual disease after allogeneic transplant for chronic lymphocytic leukemia 下载免费PDF全文
Caroline Algrin Jean‐Louis Golmard Mauricette Michallet Oumedaly Reman Anne Huynh Aurore Perrot Anne Sirvent Adriana Plesa Véronique Salaun Marie‐Christine Béné Dominique Bories Olivier Tournilhac Hélène Merle‐Béral Véronique Leblond Magali Le Garff‐Tavernier Nathalie Dhedin 《European journal of haematology》2017,98(4):363-370