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101.
烟雾病(moyamoya disease,MMD)是一种颈内动脉末端及其分支起始处进行性狭窄伴颅底异常血管网形成的脑血管疾病,临床上常将其分为缺血型、出血型和无症状型。随着诊疗技术的进步,对MMD临床分型的流行病学特征认识也在不断发展。在成年患者中,缺血型MMD占有重要地位,无症状型亦呈逐渐增多的趋势。不同临床分型MMD的发病年龄、遗传背景、病理生理机制、侧支血管代偿、受累血管分布及其预后存在显著差异。本文总结了对MMD临床分型流行病学特征认识的历史演变,不同临床分型可能的遗传背景、病理生理机制和影像学表现上的差异,为基于不同临床分型的MMD治疗决策提供新的思路。 相似文献
102.
近10年来,甲状腺外科快速发展。随着甲状腺外科相关指南、专家共识的不断修订与完善,在专业团体的引导下,中国甲状腺外科在术前诊断、手术方式、治疗方法创新等方面实现了可喜发展,病人5年生存率明显提高。甲状腺疾病诊治技术快速革新、外科术式的发展与统一、多学科诊疗模式发展与应用、术后规范化管理助力疗效提高、重视特殊情况下的甲状腺癌及髓样癌诊治以及质量控制体系的建立与完善等综合发展提升了甲状腺癌诊疗的安全性、精准性,有效的改善了病人生活质量、延长生存时间,为建设健康中国贡献力量。 相似文献
103.
《Primary Care Diabetes》2022,16(3):417-421
AimsClinical inertia behaviour affects family physicians managing chronic disease such as diabetes. Literature addressing clinical inertia in the management of hypoglycemia is scarce. The objectives of this study were to create a measurement for physician clinical inertia in managing hypoglycemia (ClinInert_InHypoDM), and to determine physicians’ characteristics associated with clinical inertia.MethodsThe study was a secondary analysis of data provided by family physicians from the InHypo-DM Study, applying exploratory factor analysis. Principal axis factoring with an Oblimin rotation was employed to detect underlying factors associated with physician behaviors. Multiple linear regression was used to determine association between the ClinInert_InHypoDM scores and physician characteristics.ResultsFactor analysis identified a statistically sound 12-item one-factor scale for clinical inertia behavior. No statistically significant differences in clinical inertia score for the studied independent variables were found.ConclusionsThis study provides a scale for assessing clinical inertia in the management of hypoglycemia. Further testing this scale in other family physician populations will provide deeper understanding about the characteristics and factors that influence clinical inertia. The knowledge derived from better understanding clinical inertia in primary care has potential to improve outcomes for patients with diabetes. 相似文献
104.
《Archives of Cardiovascular Diseases》2022,115(10):505-513
Central illustration: cumulative major adverse cardiac events (MACE) and bioresorbable vascular scaffold (BVS) thrombosis rates after 1, 2, 3, 4 and 5 years. 相似文献
105.
《Educación Médica》2020,21(6):403-409
A presentation is made of 12 cases that have a full and detailed clinical history and physical examination, which are essential for obtaining optimal diagnostic-therapeutic planning for quality care. Furthermoe, education in values focused on the patient is considered as another of the essential objectives to be transmitted in university faculties and hospitals. This article, based on anonymised real cases, aims to provide small brushstrokes in this regard, hoping that they will be useful. 相似文献
106.
107.
Yesim Aydinok 《ISBT科学丛刊》2020,15(1):102-109
Lifetime red cell concentrate (RCC) transfusions still account for significant iron overload‐related morbidity and mortality despite chelation therapy in thalassaemia. The cumulative risk of transfusion‐transmitted infections is substantial for thalassaemia patients. Pathogen reduction technologies for RCC may imply a proactive approach against new/re‐emerging pathogens and may be an ultimate safeguard for transfusion safety in the developing countries. Red cell alloimmunization may become a significant clinical challenge in thalassaemia. The availability of high‐throughput molecular blood group antigen typing in the donors may allow perfect match transfusion, beyond ABO‐D and CEK antigen‐matched transfusions. Allogeneic stem cell transplantation (A‐SCT) is the only available curative therapy in thalassaemia, but carries a substantial risk of serious adverse events and mortality. Gene addition therapy for correction of the α‐globin chain imbalance overcomes the problems of donor availability and immunological complications of A‐SCT. Gene editing by either gene disruption or correction emerged as a potential alternative to gene addition therapy in beta‐thalassaemia. A new era of novel therapeutics targeting α/β imbalance, ineffective erythropoiesis or iron dysregulation is unfolding in thalassaemia management, and a number of those now have agents in preclinical and clinical development. Hydroxyurea (HU) may improve globin chain imbalance and be beneficial for reducing or omitting transfusion requirement. Ruxolitinib has allowed steady decrease in spleen volume that may serve for avoiding splenectomy in beta‐thalassaemia. Luspatercept may restore normal erythroid differentiation and improve anaemia. Hepcidin mimetics or TMPRSS6 inhibitors may modulate ineffective erythropoiesis by iron restriction and improve anaemia and organ iron loading. 相似文献
108.
《European journal of medical genetics》2020,63(9):103981
Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection. 相似文献
109.
110.