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1.
Jeffrey P. Krischer Rashmi Gopal-Srivastava Stephen. C. Groft David J. Eckstein for the Rare Diseases Clinical Research Network 《Journal of general internal medicine》2014,29(3):739-744
Established in 2003 by the Office of Rare Diseases Research (ORDR), in collaboration with several National Institutes of Health (NIH) Institutes/Centers, the Rare Diseases Clinical Research Network (RDCRN) consists of multiple clinical consortia conducting research in more than 200 rare diseases. The RDCRN supports longitudinal or natural history, pilot, Phase I, II, and III, case–control, cross-sectional, chart review, physician survey, bio-repository, and RDCRN Contact Registry (CR) studies. To date, there have been 24,684 participants enrolled on 120 studies from 446 sites worldwide. An additional 11,533 individuals participate in the CR. Through a central data management and coordinating center (DMCC), the RDCRN’s platform for the conduct of observational research encompasses electronic case report forms, federated databases, and an online CR for epidemiological and survey research. An ORDR-governed data repository (through dbGaP, a database for genotype and phenotype information from the National Library of Medicine) has been created. DMCC coordinates with ORDR to register and upload study data to dbGaP for data sharing with the scientific community. The platform provided by the RDCRN DMCC has supported 128 studies, six of which were successfully conducted through the online CR, with 2,352 individuals accrued and a median enrollment time of just 2 months. The RDCRN has built a powerful suite of web-based tools that provide for integration of federated and online database support that can accommodate a large number of rare diseases on a global scale. RDCRN studies have made important advances in the diagnosis and treatment of rare diseases. 相似文献
2.
北京医学会罕见病分会 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组 中国医师协会青春期医学专业委员会临床遗传学组及生化学组 中华预防医学会儿童保健分会 标记免疫分析与临床编辑委员会 《标记免疫分析与临床》2021,28(10):1626-1634
遗传代谢病是一大类复杂的单基因病,由于代谢通路异常导致物质代谢紊乱,可以引起单系统或多系统损害.血液系统疾病涉及红细胞、白细胞和血小板功能和数量的异常,其中贫血最常见,新生儿到老年均可发病.现有研究发现,多种遗传代谢病可导致贫血,致病机制不同,一些疾病引起铁、维生素B12、叶酸代谢异常,另一些造成红细胞膜、代谢相关酶或血红蛋白合成异常,引起不同类型不同程度的贫血.为了提高临床医生对遗传代谢病所致贫血及血液系统疾病的认识,早期诊断、精准治疗、改善预后,国内多学科专家共同讨论,结合国内外经验及指南,以巨幼细胞性贫血、溶血性贫血、铁粒幼细胞性贫血和小细胞低色素性贫血四类贫血相关的遗传代谢病的病因、发病机制、临床表现和治疗为重点,制定了本共识,以期指导优化临床诊治实践. 相似文献
3.
Sinéad M. Murphy MB BCh MRCPI Araya Puwanant MD the Consortium for Clinical Investigations of Neurological Channelopathies Inherited Neuropathies Consortium Consortia of the Rare Disease Clinical Research Network 《Annals of neurology》2012,72(4):481-490
Since the introduction of the Orphan Drug Act in 1983, designed to promote development of treatments for rare diseases, at least 378 orphan drugs have been approved. Incentives include financial support, tax credits, and perhaps most importantly, extended market exclusivity. These incentives have encouraged industry interest and accelerated research on rare diseases, allowing patients with orphan diseases access to treatments. However, extended market exclusivity has been associated with unacceptably high drug costs, both for newly developed drugs and for drugs that were previously widely available. We suggest that a paradoxical effect of orphan product exclusivity can be reduced patient access to existing drugs. In addition, the costs of each new drug are arguably unsustainable for patients and for the American health care system. Of all the specialties, neurology has the third highest number of orphan product designations, and neurological diseases account for at least one‐fifth of rare diseases. Citing the use of tetrabenazine for chorea in Huntington disease, adrenocorticotropic hormone for infantile spasms, and enzyme replacement therapy with alglucosidase alpha for Pompe disease, we highlight these paradoxical effects. ANN NEUROL 2012;72:481–490 相似文献
4.
Management of primary anal canal adenocarcinoma: a large retrospective study from the Rare Cancer Network 总被引:2,自引:0,他引:2
Belkacémi Y Berger C Poortmans P Piel G Zouhair A Méric JB Nguyen TD Krengli M Behrensmeier F Allal A De Looze D Bernier J Scandolaro L Mirimanoff RO;Rare Cancer Network 《International journal of radiation oncology, biology, physics》2003,56(5):1274-1283
PURPOSE: Primary adenocarcinoma of the anus is a rare tumor. The current standard treatment consists of abdominoperineal resection (APR). The aim of this Rare Cancer Network study was to evaluate the prognostic factors and outcome after the three most commonly used treatment approaches. METHODS AND MATERIALS: This multicenter study collected data from 82 patients: 15 with T1 (18%), 34 with T2 (42%), 22 with T3 (27%), and 11 with T4 (13%) tumors according to the TNM classification (International Union Against Cancer, 1997). Patients were separated into, and analyzed according to, three treatment categories: radiotherapy/surgery (RT/S group, n = 45), combined radiochemotherapy (RT/CHT group, n = 31), and APR alone (APR group, n = 6). The main patient characteristics were evenly distributed among the three groups. RESULTS: The actuarial locoregional relapse rate at 5 years was 37%, 36%, and 20%, respectively, in the RT/S, RT/CHT, and APR groups (RT/S vs. RT/CHT, p = 0.93; RT/CH vs. APR, p = 0.78). The 3-, 5-, and 10-year overall survival rate was 47%, 29%, and 23% in the RT/S group, 75%, 58%, and 39% in the RT/CHT group, and 42%, 21%, and 21% in the APR group (RT/CHT vs. RT/S, p = 0.027), respectively. The 5- and 10-year disease-free survival rate was 25% and 18% in the RT/S group, 54% and 20% in the RT/CHT group, and 22% and 22% in the APR group (RT/CHT vs. RT/S, p = 0.038), respectively. Multivariate analysis revealed four independent prognostic factors for survival: T stage, N stage, histologic grade, and treatment modality. CONCLUSION: Primary adenocarcinoma of the anal canal requires rigorous management. Multivariate analysis showed that T and N stage, histologic grade, and treatment modality are independent prognostic factors for survival. We observed better survival rates after combined RT/CHT. We also recommend using APR only for salvage treatment. 相似文献
5.
McCormack FX Inoue Y Moss J Singer LG Strange C Nakata K Barker AF Chapman JT Brantly ML Stocks JM Brown KK Lynch JP Goldberg HJ Young LR Kinder BW Downey GP Sullivan EJ Colby TV McKay RT Cohen MM Korbee L Taveira-DaSilva AM Lee HS Krischer JP Trapnell BC;National Institutes of Health Rare Lung Diseases Consortium;MILES Trial Group 《The New England journal of medicine》2011,364(17):1595-1606
6.
Design of clinical trials for new products in hemophilia: communication from the SSC of the ISTH
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7.
Inoue Y Trapnell BC Tazawa R Arai T Takada T Hizawa N Kasahara Y Tatsumi K Hojo M Ichiwata T Tanaka N Yamaguchi E Eda R Oishi K Tsuchihashi Y Kaneko C Nukiwa T Sakatani M Krischer JP Nakata K;Japanese Center of the Rare Lung Diseases Consortium 《American journal of respiratory and critical care medicine》2008,177(7):752-762
8.
Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003‐2015: A national cohort study
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9.
Céline Mouly Rosa Vargas-Poussou Anne Lienhardt Caroline Silve Marguerite Hureaux Corinne Magdelaine Alexandre Buffet Solange Grunenwald Jean-Marc Kuhn Thierry Brue Yves Reznik Antoine Tabarin Dominique Martin-Coignard Jean-Philippe Haymann Ivan Tack Antoine Bennet Philippe Caron Agnès Linglart Delphine Vezzosi for the Reference Centre for Rare Diseases of Calcium Phosphate Metabolism 《Clinical endocrinology》2020,93(3):248-260
10.
Wegener's Granulomatosis of the Breast with Peculiar Radiological Aspect Mimicking Breast Carcinoma
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