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排序方式: 共有9033条查询结果,搜索用时 15 毫秒
211.
Yoann Perreux Marie Alexandre Chaix Anna Kamp François-Pierre Mongeon Magali Pham Loïc Boussel Roland Henaine Annie Dore Blandine Mondésert Sylvie Di-Filippo Paul Khairy Francis Bessiere 《Congenital heart disease》2020,15(6):473-482
Sudden cardiac death and heart failure are well known long-term complications after atrial switch for D-transposition of the great arteries (D-TGA).
Right systemic ventricular dysfunction is common and myocardial ischemia has
been implicated as a putative mechanism for sudden death, with coronary anomalies prevalent in 30% of cases. We sought to assess an association between
adverse events and coronary anomalies in patients with D-TGA and atrial switch
surgery. An observational study was conducted in 3 tertiary centers (Montreal
Heart Institute, Canada, Nationwide Children’s hospital, Chicago, USA and Hopital cardiologique Louis Pradel de Lyon, France). Adults with D-TGA and atrial
switch surgery qualified for inclusion if they had a major adverse cardiovascular
event (MACE), i.e., ventricular arrhythmia, sudden cardiac death, heart failure,
cardiac transplantation, or cardiovascular death. The prevalence of coronary
anomalies was compared to historical controls. Forty-five patients were included.
Twenty-one (46.7%) patients experienced a ventricular arrhythmia and 35
(77.8%) suffered from symptomatic heart failure and/or severe right ventricular
dysfunction. Twelve patients (26.7%) had congenitally abnormal coronary
arteries. There was no difference in the prevalence of coronary anomalies between
the cohort with a MACE and a pooled population of 647 historical controls with
D-TGA (28.7%, p = 0.89). In conclusion, the prevalence of congenital coronary
anomalies is not higher in patients with D-TGA and atrial switch surgery who had
adverse cardiovascular events. It could be hypothesized that ischemic complications in this patient population are more likely to be related to a supply-demand
mismatch of the distal microvasculature rather than proximal coronary anomalies. 相似文献
212.
Anaïs Mozar Nagesha Guthalu Kondegowda Ilana Pollack Rafael Fenutria Rupangi C. Vasavada 《Clinical reviews in bone and mineral metabolism》2014,12(3):165-177
Diabetes is one of the fastest growing diseases worldwide, with an immense economic and health burden attached. It is now well accepted that a deficiency of functional insulin-producing pancreatic beta-cells is the main cause for all forms of diabetes. Several approaches are being taken to increase functional beta-cell mass. These include differentiation of new beta-cells from stem cells or progenitor cells, transdifferentiation of beta-cells from other mature cell types, as well as finding ways to enhance the function, proliferation, survival, and regeneration of preexisting beta-cells. This article enumerates on the role of parathyroid hormone-related protein (PTHrP) and its mode of action on pancreatic beta-cell function, proliferation, and survival in rodents as well as in human beta-cells. A further understanding of the mechanism of action of PTHrP and its role in the normal physiology and pathophysiology of the beta-cell will be important for its potential use in future as a therapeutic treatment for diabetes. 相似文献
213.
Hélo?se Gauvin Claudia Moreau Jean-Fran?ois Lefebvre Catherine Laprise Hélène Vézina Damian Labuda Marie-Hélène Roy-Gagnon 《European journal of human genetics : EJHG》2014,22(6):814-821
In genetics the ability to accurately describe the familial relationships among a group of individuals can be very useful. Recent statistical tools succeeded in assessing the degree of relatedness up to 6–7 generations with good power using dense genome-wide single-nucleotide polymorphism data to estimate the extent of identity-by-descent (IBD) sharing. It is therefore important to describe genome-wide patterns of IBD sharing for more remote and complex relatedness between individuals, such as that observed in a founder population like Quebec, Canada. Taking advantage of the extended genealogical records of the French Canadian founder population, we first compared different tools to identify regions of IBD in order to best describe genome-wide IBD sharing and its correlation with genealogical characteristics. Results showed that the extent of IBD sharing identified with FastIBD correlates best with relatedness measured using genealogical data. Total length of IBD sharing explained 85% of the genealogical kinship''s variance. In addition, we observed significantly higher sharing in pairs of individuals with at least one inbred ancestor compared with those without any. Furthermore, patterns of IBD sharing and average sharing were different across regional populations, consistent with the settlement history of Quebec. Our results suggest that, as expected, the complex relatedness present in founder populations is reflected in patterns of IBD sharing. Using these patterns, it is thus possible to gain insight on the types of distant relationships in a sample from a founder population like Quebec. 相似文献
214.
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
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Myriam Oufadem Géraldine Goudefroye Lucile Boutaud Jean‐Luc Alessandri Neus Baena Geneviève Baujat Clarisse Baumann Odile Boute‐Benejean Roseline Caumes Charles Decaestecker Dominique Gaillard Alice Goldenberg Marie Gonzales Muriel Holder‐Espinasse Marie‐Line Jacquemont Didier Lacombe Sylvie Manouvrier‐Hanu Sandrine Marlin Michèle Mathieu‐Dramard Gilles Morin Laurent Pasquier Florence Petit Marlène Rio Robert Smigiel Christel Thauvin‐Robinet Alexandre Vasiljevic Alain Verloes Valérie Malan Arnold Munnich Loïc de Pontual Michel Vekemans Stanislas Lyonnet Tania Attié‐Bitach Jeanne Amiel 《Human mutation》2014,35(4):478-485
Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss‐of‐function (LoF) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 LoF. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. 相似文献
215.
Error in the Abstract in the Article by Maldini et al (Arthritis Care Res [Hoboken], March 2014)
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Carla Maldini Raphaèle Seror Olivier Fain Robin Dhote Zahir Amoura Michel De Bandt Jean‐Luc Delassus Géraldine Falgarone Loïc Guillevin Véronique Le Guern François Lhote Olivier Meyer Jacky Ramanoelina Karim Sacré Yurdagul Uzunhan Jean‐Louis Leroux Xavier Mariette Alfred Mahr 《Arthritis care & research》2014,66(5):794-794
216.
Edouard Cornet Cécile Tomowiak Aline Tanguy‐Schmidt Stéphane Lepretre Jehan Dupuis Pierre Feugier Alain Devidas Clara Mariette Véronique Leblond Catherine Thiéblemont Patricia Validire‐Charpy Laurent Sutton Emmanuel Gyan Jean‐Claude Eisenmann Pascale Cony‐Makhoul Loïc Ysebaert Xavier Troussard the Société Française d'Hématologie 《British journal of haematology》2014,166(3):390-400
A large, multicentre, retrospective survey of patients with hairy cell leukaemia (HCL) was conducted in France to determine the frequency of second malignancies and to analyse the long‐term effects of the established purine nucleoside analogues (PNAs), cladribine and pentostatin. The survey retrospectively reviewed the medical history of patients and their immediate family, clinical and biological presentation at the time of HCL diagnosis, treatment choice, response to treatment, time to relapse and cause of death. Data were collected for 487 patients with HCL. Of the patients included in the survey, 18% (88/487) had a familial history of cancers, 8% (41/487) presented with malignancies before HCL diagnosis and 10% (48/487) developed second malignancies after HCL was diagnosed. An excess incidence of second malignancies was observed, with a standardized incidence ratio (SIR) of 1·86 (95% confidence interval (CI): 1·34–2·51), with no significant difference between PNAs. For second haematological malignancies alone, the SIR was markedly increased at 5·32 (95% CI: 2·90–8·92). This study highlights the high frequency of cancers in HCL patients and their family members. The frequency of second malignancies is notably increased, particularly for haematological malignancies. The respective role of pentostatin and cladribine in the development of second malignancies is debatable. 相似文献
217.
Martine Vaxillaire Loïc Yengo Stéphane Lobbens Ghislain Rocheleau Elodie Eury Olivier Lantieri Michel Marre Beverley Balkau Amélie Bonnefond Philippe Froguel 《Diabetologia》2014,57(8):1601-1610
Aims/hypothesis
Genome-wide association studies have firmly established 65 independent European-derived loci associated with type 2 diabetes and 36 loci contributing to variations in fasting plasma glucose (FPG). Using individual data from the Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR) prospective study, we evaluated the contribution of three genetic risk scores (GRS) to variations in metabolic traits, and to the incidence and prevalence of impaired fasting glycaemia (IFG) and type 2 diabetes.Methods
Three GRS (GRS-1, 65 type 2 diabetes-associated single nucleotide polymorphisms [SNPs]; GRS-2, GRS-1 combined with 24 FPG-raising SNPs; and GRS-3, FPG-raising SNPs alone) were analysed in 4,075 DESIR study participants. GRS-mediated effects on longitudinal variations in quantitative traits were assessed in 3,927 nondiabetic individuals using multivariate linear mixed models, and on the incidence and prevalence of hyperglycaemia at 9 years using Cox and logistic regression models. The contribution of each GRS to risk prediction was evaluated using the C-statistic and net reclassification improvement (NRI) analysis.Results
The two most inclusive GRS were significantly associated with increased FPG (β?=?0.0011 mmol/l per year per risk allele, p GRS-1 ?=?8.2?×?10?5 and p GRS-2 ?=?6.0?×?10?6), increased incidence of IFG and type 2 diabetes (per allele: HR GRS-1 1.03, p?=?4.3?×?10?9 and HR GRS-2 1.04, p?=?1.0?×?10?16), and the 9 year prevalence (OR GRS-1 1.13 [95% CI 1.10, 1.17], p?=?1.9?×?10?14 for type 2 diabetes only; OR GRS-2 1.07 [95% CI 1.05, 1.08], p?=?7.8?×?10?25, for IFG and type 2 diabetes). No significant interaction was found between GRS-1 or GRS-2 and potential confounding factors. Each GRS yielded a modest, but significant, improvement in overall reclassification rates (NRI GRS-1 17.3%, p?=?6.6?×?10?7; NRI GRS-2 17.6%, p?=?4.2?×?10?7; NRI GRS-3 13.1%, p?=?1.7?×?10?4).Conclusions/interpretation
Polygenic scores based on combined genetic information from type 2 diabetes risk and FPG variation contribute to discriminating middle-aged individuals at risk of developing type 2 diabetes in a general population. 相似文献218.
Petra Kleinbongard Thomas Konorza Dirk Böse Theodor Baars Michael Haude Raimund Erbel Gerd Heusch 《Journal of molecular and cellular cardiology》2012,52(4):890-896
The interventional implantation of a stent into an atherosclerotic coronary artery is a unique and paradigmatic scenario of plaque rupture in humans. The use of protection devices not only prevents the released plaque particles and the superimposed thrombotic material from being washed and embolized into the coronary microcirculation of the individual patient, but permits also the retrieval and ex vivo analysis of particulate plaque debris and soluble substances. The particulate debris comprises typical cholesterol crystals, foam cells, hyalin material and calcium deposits from the atheroma as well as platelets and coagulation material; soluble substances include vasoconstrictors, such as serotonin and thromboxane, as well as inflammatory mediators, such as TNFα which amplifies vasoconstriction by inducing endothelial dysfunction. The vasoconstriction observed in a bioassay ex vivo correlates to clinical symptoms, angiographic stenosis and plaque burden, as assessed by intravascular ultrasound. The release of TNFα into the aspirate correlates to restenosis. Detailed analysis of the human coronary aspirate may promote a better understanding of the pathophysiology of the vulnerable atherosclerotic plaque and help to better antagonize the microvascular consequences of coronary microembolization, including the no reflow phenomenon. This article is part of a Special Issue entitled “Coronary Blood Flow.” 相似文献
219.
Chatelain FC Bichet D Douguet D Feliciangeli S Bendahhou S Reichold M Warth R Barhanin J Lesage F 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(14):5499-5504
TWIK1 belongs to the family of background K(+) channels with two pore domains. In native and transfected cells, TWIK1 is detected mainly in recycling endosomes. In principal cells in the kidney, TWIK1 gene inactivation leads to the loss of a nonselective cationic conductance, an unexpected effect that was attributed to adaptive regulation of other channels. Here, we show that TWIK1 ion selectivity is modulated by extracellular pH. Although TWIK1 is K(+) selective at neutral pH, it becomes permeable to Na(+) at the acidic pH found in endosomes. Selectivity recovery is slow after restoration of a neutral pH. Such hysteresis makes plausible a role of TWIK1 as a background channel in which selectivity and resulting inhibitory or excitatory influences on cell excitability rely on its recycling rate between internal acidic stores and the plasma membrane. TWIK1(-/-) pancreatic β cells are more polarized than control cells, confirming a depolarizing role of TWIK1 in kidney and pancreatic cells. 相似文献
220.