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21.
Saura D Campos JV Villegas M Picó F de la Morena G Valdés-Chávarri M 《International journal of cardiology》2008,129(1):e7-e9
Heart–hand syndromes show substantial clinical and genetic heterogeneity. The unusual case of a patient with a heart–hand syndrome consisting of preaxial polydactylia, postaxial syndactylia, parachute mitral valve, mild subaortic stenosis, and double outlet right ventricle is presented and discussed. The importance of distinguishing Holt–Oram syndrome from its phenocopies and other heart–hand syndromes is underlined. 相似文献
22.
Sergio Raposeiras-Roubín Berenice Caneiro Queija Fabrizio D’Ascenzo Tim Kinnaird Albert Ariza-Solé Sergio Manzano-Fernández Christian Templin Lazar Velicki Ioanna Xanthopoulou Enrico Cerrato Giorgio Quadri Andrea Rognoni Giacome Boccuzzi Andrea Montabone Salma Taha Alessandro Durante Sebastiano Gili Giulia Magnani Emad Abu-Assi 《Revista espa?ola de cardiología》2019,72(3):215-223
Introduction and objectives
The PARIS score allows combined stratification of ischemic and hemorrhagic risk in patients with ischemic heart disease treated with coronary stenting and dual antiplatelet therapy (DAPT). Its usefulness in patients with acute coronary syndrome (ACS) treated with ticagrelor or prasugrel is unknown. We investigated this issue in an international registry.Methods
Retrospective multicenter study with voluntary participation of 11 centers in 6 European countries. We studied 4310 patients with ACS discharged with DAPT with ticagrelor or prasugrel. Ischemic events were defined as stent thrombosis or spontaneous myocardial infarction, and hemorrhagic events as BARC (Bleeding Academic Research Consortium) type 3 or 5 bleeding. Discrimination and calibration were calculated for both PARIS scores (PARISischemic and PARIShemorrhagic). The ischemic-hemorrhagic net benefit was obtained by the difference between the predicted probabilities of ischemic and bleeding events.Results
During a period of 17.2 ± 8.3 months, there were 80 ischemic events (1.9% per year) and 66 bleeding events (1.6% per year). PARISischemic and PARIShemorrhagic scores were associated with a risk of ischemic events (sHR, 1.27; 95%CI, 1.16-1.39) and bleeding events (sHR, 1.14; 95%CI, 1.01-1.30), respectively. The discrimination for ischemic events was modest (C index = 0.64) and was suboptimal for hemorrhagic events (C index = 0.56), whereas calibration was acceptable for both. The ischemic-hemorrhagic net benefit was negative (more hemorrhagic events) in patients at high hemorrhagic risk, and was positive (more ischemic events) in patients at high ischemic risk.Conclusions
In patients with ACS treated with DAPT with ticagrelor or prasugrel, the PARIS model helps to properly evaluate the ischemic-hemorrhagic risk. 相似文献23.
24.
Potassium supplementation lowers blood pressure and increases urinary kallikrein in essential hypertensives 总被引:1,自引:0,他引:1
In order to eludicate possible mechanism(s) involved in the blood pressure reduction induced by potassium (K) supplementation, we studied the changes of BP and of some of its regulatory systems, including levels of urinary kallikrein (UKal)--an index of renal kallikrein production. Twenty-four untreated essential hypertensives, with a basal BP of 147/96 +/- 13/7 mmHg and normal renal function, received in crossover, double-blind, randomised fashion, 64 mmol KCl or placebo during two periods of 4 weeks each. At the 4th week of potassium supplementation systolic, diastolic and mean BPs decreased by 6.3 +/- 2 (P less than 0.01), 3.0 +/- 2 and 4.1 +/- 2 (P less than 0.05) mmHg respectively for the supine position, and 5.0 +/- 2, 4.0 +/- 2 (P less than 0.05) and 4.0 +/- 1 (P less than 0.05) mmHg for the standing position. Urinary potassium (K) increased from 55 +/- 4 to 123 +/- 6 mmol/24 hours (P less than 0.001) and UKal from 692 +/- 69 to 1052 +/- 141 mU/24 hours (P less than 0.01). Serum K rose from 3.8 +/- 0.1 mEq/l to 4.1 +/- 0.1 mmol/l (P less than 0.001) and PRA from 0.77 +/- 0.12 to 0.99 +/- 0.14 ng/ml/h (P less than 0.05). Correlations were observed between UKal and urinary K (r = 0.44, P less than 0.0001); between differences in UKal and urinary K and in UKal and urinary Na (r = 0.50, P less than 0.0005 and r = 0.48, P less than 0.001 respectively).(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
25.
Martin RM Lin CJ Costa EM de Oliveira ML Carrilho A Villar H Longui CA Mendonca BB 《The Journal of clinical endocrinology and metabolism》2003,88(12):5739-5746
P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production of sex hormones. We performed a clinical, hormonal, and molecular study of 11 patients from 6 Brazilian families with the combined 17alpha-hydroxylase/17,20-lyase deficiency phenotype. All patients had elevated basal serum levels of progesterone (1.8-38 ng/ml; 0.57-12 pmol/liter) and suppressed plasma renin activity. CYP17 genotyping identified 5 missense mutations. The compound heterozygous mutation R362C/W406R was found in 1 family, whereas the homozygous mutations R96W, Y329D, and P428L were seen in the other 5 families. The R96W mutation has been described as the cause of p450c17 deficiency in Caucasian patients. The other mutations were not found in 50 normal subjects screened by allele-specific oligonucleotide hybridization (Y329D, R362C, and W406R) or digestion with HphI (P428L) and were recently found in other Brazilian patients. Therefore, we elucidated the genotype of 11 individuals with p450c17 deficiency and concluded that basal progesterone measurement is a useful marker of p450c17 deficiency and that its use should reduce the misdiagnosis of this deficiency in patients presenting with male pseudohermaphroditism, primary or secondary amenorrhea, and mineralocorticoid excess syndrome. 相似文献
26.
F. Roesch-Dietlen A.D. Cano-Contreras Y.J. Sánchez-Maza J.M. Espinosa-González M.Á. Vázquez-Prieto E.J. Valdés-de la O F. Díaz-Roesch M.Á. Carrasco-Arroniz A. Cruz-Palacios P. Grube-Pagola A. Sumoza-Toledo H. Vivanco-Cid G. Mellado-Sánchez A. Meixueiro-Daza C.S. Silva-Cañetas M.G. Carrillo-Toledo R. Lagunes-Torres M. Amieva-Balmori J.M. Remes-Troche 《Revista de gastroenterologia de Mexico》2018,83(3):253-258
Introduction and aim
Cancer is the result of the interaction of genetic and environmental factors. It has recently been related to viral infections, one of which is human papillomavirus. The aim of the present study was to describe the frequency of human papillomavirus infection in patients with digestive system cancers.Materials and methods
A prospective, multicenter, observational study was conducted on patients with gastrointestinal cancer at 2 public healthcare institutes in Veracruz. Two tumor samples were taken, one for histologic study and the other for DNA determination of human papillomavirus and its genotypes. Anthropometric variables, risk factors, sexual habits, tumor location, and histologic type of the cancer were analyzed. Absolute and relative frequencies were determined using the SPSS version 24.0 program.Results
Fifty-three patients were studied. They had gastrointestinal cancer located in: the colon (62.26%), stomach (18.87%), esophagus (7.55%), rectum (7.55%), and small bowel (3.77%). Human papillomavirus was identified in 11.32% of the patients, 66.7% of which corresponded to squamous cell carcinoma and 33.3% to adenocarcinoma. Only genotype 18 was identified. Mean patient age was 61.8 ± 15.2 years, 56.60% of the patients were men, and 43.40% were women. A total of 15.8% of the patients had a family history of cancer and 31.6% had a personal history of the disease, 38.6% were tobacco smokers, and 61.4% consumed alcohol. Regarding sex, 5.3% of the patients said they were homosexual, 3.5% were bisexual, 29.8% engaged in oral sex, and 24.6% in anal sex.Conclusions
Our study showed that human papillomavirus infection was a risk factor for the development of gastrointestinal cancer, especially of squamous cell origin. 相似文献27.
González-Barcala FJ Blanco-González S Valdés-Cuadrado L García-Prim JM Golpe-Gómez AL Ledo-Andión R 《Anales de medicina interna (Madrid, Spain : 1984)》2003,20(8):410-412
The alveolar lipoproteinosis (ALP) is a rare pulmonary disease, characterized by an excess of phospholipids in the distal airway, and the most symptom of which is dyspnea. 35 years old patient in whom we observed incidentally pulmonary infiltrations in a chest X-ray during a unrelated pre-surgical study. We could not make a definitive diagnosis after further investigations carried out in the Division of Respiratory Medicine. We, therefore, sent this patient to the Division of Chest Surgery for a complementary video-thoracoscopy. Biopsy showed presence of ALP. The ALP is a rare disease that originates diagnosis difficulties, and that often needs lung biopsies to confirm its diagnosis. Once treated, its prognosis is excellent. The safest and most effective treatment is a complete pulmonary washing, that, in our patient, was required 7 months after diagnosis as this patient presented clinical deterioration and worsening in the lung function studies. This treatment did not achieve the expected goal. In the subsequent 6 months, we repeated the same treatment and failed again. We then started a treatment with granulocyte-macrophage-colony stimulating factor (GM-CSF) and obtain good response. 相似文献
28.
Donald M. Lyall Lorna M. Lopez Mark E. Bastin Susana Muñoz Maniega Lars Penke Maria del C. Valdés Hernández Natalie A. Royle John M. Starr David. J. Porteous Joanna M. Wardlaw Ian J. Deary 《Behavior genetics》2013,43(1):13-23
The non-synonymous mutations arg16gly (rs1042713) and gln27glu (rs1042714) in the adrenergic β-2 receptor gene (ADRB2) have been associated with cognitive function and brain white matter integrity. The current study aimed to replicate these findings and expand them to a broader range of cognitive and brain phenotypes. The sample used is a community-dwelling group of older people, the Lothian Birth Cohort 1936. They had been assessed cognitively at age 11 years, and undertook further cognitive assessments and brain diffusion MRI tractography in older age. The sample size range for cognitive function variables was N = 686–765, and for neuroimaging variables was N = 488–587. Previously-reported findings with these genetic variants did not replicate in this cohort. Novel, nominally significant associations were observed; notably, the integrity of the left arcuate fasciculus mediated the association between rs1042714 and the Digit Symbol Coding test of information processing speed. No significant associations of cognitive and brain phenotypes with ADRB2 variants survived correction for false discovery rate. Previous findings may therefore have been subject to type 1 error. Further study into links between ADRB2, cognitive function and brain white matter integrity is required. 相似文献
29.
Maria Loane Joan K Morris Marie-Claude Addor Larraitz Arriola Judith Budd Berenice Doray Ester Garne Miriam Gatt Martin Haeusler Babak Khoshnood Kari Klungs?yr Melve Anna Latos-Bielenska Bob McDonnell Carmel Mullaney Mary O'Mahony Annette Quei?er-Wahrendorf Judith Rankin Anke Rissmann Catherine Rounding Joaquin Salvador David Tucker Diana Wellesley Lyubov Yevtushok Helen Dolk 《European journal of human genetics : EJHG》2013,21(1):27-33
This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10 000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence. 相似文献