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11.
《Hemoglobin》2013,37(4):287-296
We have conducted a broad confidential inquiry among 401 hospital departments trying to estimate the number of patients affected with severe forms of hemoglobinopathies living in The Netherlands. With less than 30% response we have registered 559 patients in all age categories of whom 77.0% are affected with sickle cell disease and 17.5% with β‐thalassemia (thal) major. We estimate that the real figure could be around 800 patients, a figure more than six times higher than the number published in 1995 on which the reluctance to offer prevention was based. The actual figures and the incidence estimation of approximately 60 patients a year underline the urgent need for the official implementation of a prevention strategy in The Netherlands. During the last 5 years we have been working towards the implementation of a multi‐intervention strategy for primary prevention using the existing structures of public health. The obstacles we have encountered to endorse such a strategy are discussed as a possible guide for other immigration countries. 相似文献
12.
《Hemoglobin》2013,37(2):160-170
Pakistan has a high prevalence of β-thalassemia (β-thal) but lacks a screening program for its prevention. This questionnaire-based cross-sectional study was conducted in six randomly chosen non medical universities to assess the students’ knowledge of β-thal and premarital screening, and their attitude towards such a program. Comparison was made between the respondents’ attitude towards premarital screening before and after providing them some information regarding the disease. Only 54.5% (207) of 380 students had heard of β-thal, with a mean knowledge score of 13.0 ± 4.4 out of 27 questions. Most respondents were aware of the concept of premarital screening. Out of 207 students, 60.4% wanted to know if they were carriers, 69.1% wanted to know their spouse’s carrier status and 59.4% wanted premarital screening to be made mandatory in Pakistan. These figures increased to 72.5, 78.3 and 67.6%, respectively after provision of written information (p values: 0.03, 0.02, and 0.01, respectively). The positive attitude towards premarital screening with low background knowledge of the disease highlights the need of a mass awareness campaign and subsequent implementation of a premarital screening program. 相似文献
13.
《Hemoglobin》2013,37(2):117-121
Five hundred and 20 cases (279 males; 241 females), referred for anemia, with a wide age range, from different parts of the state of Orissa, India, were investigated to evaluate the extent of the prevalence of hemoglobinopathies (sickle cell disorders and thalassemias) by analyzing the associated hemoglobin (Hb) profiles, Hb genotypes, as well as the clinical and hematological parameters. We found sickle cell trait (Hb AS) in 131 cases (62 males; 69 females), homozygous sickle cell anemia in 49 cases (34 males; 15 females) and Hb S‐β thalassemia (S‐β‐thal) in 17 cases (nine males; eight females). There were also 46 cases (32 males; 14 females) of β‐thal major, 103 cases (51 males; 52 females) of β‐thal trait, six cases (four males; two females) of Hb E trait [β26(B8)Glu→Lys; GAG→AAG], and 17 cases (12 males; five females) of Hb E‐β‐thal (E‐β‐thal). A large proportion of these anomalies were found among the general caste people rather than among the tribal population which constitutes 22% of the total population in this state. Hb E was found mainly in higher castes like Khandayat and Karan, residing in the coastal region of Orissa. This study provides comprehensive data on the spectrum of hemoglobinopathies in this state. 相似文献
14.
《Hemoglobin》2013,37(5):296-303
According to the data from different screening studies, thalassemia is the most commonly seen hereditary hemolytic disease in China. The reported prevalence of thalassemia carriers varies but it is most prevalent in Southern China. In the past, the outcome of patients with thalassemia major has been very poor due to unfavorable economic background. With economic improvement in the past 10 years, increasing number of patients can get regular transfusion and chelation, and more patients can be treated by hemopoietic stem cell transplantation. A better prevention network has been built up over the years, but there are still babies being born with severe forms of thalassemia every year. A more comprehensive preventive program and public education are vital. 相似文献
15.
Spinal cord compression due to extramedullary hematopoiesis is a rare manifestation of thalassemia. We present a 28-year-old woman with beta-thalassemia intermedia and progressive paraparesis. She had a thoracic extradural extramedullary mass lesion on MRI. She improved after receiving multiple transfusions. Clinical awareness of this phenomenon with early treatment is essential for a successful outcome. 相似文献
16.
目的::探讨产前筛查地中海贫血的临床意义。方法:通过回顾性分析,对就诊的2284例中孕期孕妇进行血常规、血红蛋白电泳检查进行地中海贫血筛查分析,对表型阳性的样本进一步行地中海贫血基因检测。结果:2284例孕妇中,地中海贫血筛查阳性的有139例(6.09%),经基因检测确诊为地中海贫血的125例(5.60%),地中海贫血筛查的诊断符合率较高89.93%(125/139)。结论:地中海贫血基因检测要求高,方法繁琐,地中海贫血筛查方法简单,诊断符合率较高,可用于基层医院筛查地中海贫血。 相似文献
17.
《Hematology/oncology and stem cell therapy》2020,13(2):71-75
Hematopoietic stem cell transplantation (HSCT) remains the only established definitive cure for severe hemoglobinopathies, such as sickle cell disease (SCD) and thalassemia—the most prevalent life-threatening non-communicable disease of childhood globally. HSCT can not only cure over 85% of children with a compatible sibling but also restore normal health-related quality of life in most cases who do not have major irreversible organ damage at transplant. In low- and middle-income countries (LMICs), particularly in sub-Saharan Africa, SCD carrier rate can be up to 30% and 1% of live births have SCD. Relatively simple and inexpensive measures such as newborn screening, early diagnosis, caregiver education, and timely institution of anti-pneumococcal prophylaxis and hydroxyurea therapy can substantially reduce SCD-related mortality and morbidity. Improved prevention and early care should proceed in parallel with the development of transplant services and hope for cure. Cure2Children, an Italian NGO, has supported the startup of several bone marrow transplantation programs in LMICs where over 500 transplants have been performed over the last 10 years, with outcomes not substantially different from high-income countries but at a fraction of the cost. This report summarizes this experience and suggests some strategies to set up new HSCT units. 相似文献
18.
目的探讨地中海贫血(地贫)筛查的血液学参数平均红细胞血红蛋白量(MCH)、平均红细胞体积(MCV)的大人群相关性。方法收集4920份育龄人的外周血样品;测定样品的MCH和MCV,再进行地贫基因诊断;全体、非地贫、地贫的样品再按性别划分,共9个组别;计算每组的MCH和MCV的相关系数和拟合方程。结果经基因诊断确诊,非地贫4463例,地贫457例,α-地贫311例、β-地贫133例、α复合 β-地贫13例;全体、非地贫、地贫3组的MCH和MCV相关系数分别为0.965、0.880、0.968;按性别划分时,女性的该相关系数比男性稍高。结论在大人群(育龄)地贫筛查中,地贫携带者的MCH和MCV高度显著相关。本结果为大人群地贫筛查策略的制定、参数选取与分析提供依据。 相似文献
19.
目的探讨羊水产前诊断在检测中、重型地中海贫血胎儿中的应用,以此降低出生缺陷。方法应用跨越断裂点PCR(Gap-PCR)法以及反向点杂交技术(RDB-PCR),对2226例孕妇羊水进行产前地贫基因检测。结果检测出正常胎)L575例占比例25.8%,异常胎儿165l例占比例74.2%。其中Bart‘S水肿胎137例,血红蛋白H病180例,中、重型β-地贫96例,中、重型α复合β地贫46例。结论高危人群在孕中期行羊水产前诊断可以有效地阻止中、重型地贫患儿的出生,从而降低出生缺陷。 相似文献
20.