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61.
62.
目的 探讨股骨重建钉治疗多发性骨软骨瘤患者粗隆间骨折合并同侧粗隆下骨折的临床疗效.方法 2009年1月至2010年6月我科使用股骨重建钉治疗多发性骨软骨瘤患者粗隆间骨折合并同侧粗隆下骨折18例,男13例,女5例;其中右侧10例,左侧8例;年龄23~69岁,平均(48.5±2.7)岁.股骨粗隆间骨折按Evans标准分类,Ⅰ型1例,Ⅱ型2例,Ⅲ A型6例,Ⅲ B型4例,Ⅳ型3例,Ⅴ型2例.全部合并同侧粗隆下骨折,根据Russell-Taylor分型,Ⅰ A型6例,Ⅰ B型8例,Ⅱ B型4例.所有患者的影像学资料均提示为全身多发性骨软骨瘤.随访患者骨折术后并发症的发生情况、临床愈合时间及功能评分.结果 18例患者均获得随访,随访时间12-30个月,平均(24.2±0.8)个月.手术时间75-135min,平均(105±6.5)min.术后住院时间为7-12d,平均(9.3±1.2)d.末次随访时的Harris评分为65~95分,平均(86.6±3.4)分,其中优7例,良8例,中2例,差1例,优良率83.33﹪.骨折愈合时间12-20周,平均为(16.2±1.8)周.末次随访时除1例出现头钉切割股骨头和1例出现髋内翻外,无骨折再移位,无内固定失效,无股骨头缺血性坏死,无感染发生等并发症.结论股骨重建钉治疗多发性骨软骨瘤患者粗隆间骨折合并同侧粗隆下骨折取得良好临床效果,具有手术相对简单,创伤小,固定牢固,患者可早期功能活动且并发症少等优点. 相似文献
63.
Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background?
Giacomo Pata MD Riccardo Nascimbeni MD Diego Di Lorenzo PhD Maria Gervasi PhD Vincenzo Villanacci MD Bruno Salerni MD 《Journal of surgical oncology》2009,100(6):520-522
A case of obstructing colon cancer is described in a 31‐year‐old patient affected by hereditary multiple exostoses. The association of these two rare conditions, which has never been described previously, and their early onset prompt us to discuss the clinical and genetic elements of a potential common pathogenic scenario. J. Surg. Oncol. 2009;100:520–522. © 2009 Wiley‐Liss, Inc. 相似文献
64.
运用位置克隆与同源筛选相结合的方法克隆了位于11p11的EXT2基因,并对20个EXT家系的37个病人进行了SSCP和测序分析。结果发现2个病人含有GG插入突变,证实了所克隆基因为EXT2基因。同时,运用同源筛选法克隆了EXT4基因,并将其定位于1p36.1带 相似文献
65.
We report a 50-year-old male patient with hereditary multiple exostoses (HME) and ankylosing spondylitis (AS). This is the
first case reporting the coexistence of HME and AS. Our patient has multiple exostoses around the knee, elbow and wrist joints.
At the age of 40 years, pain in the lower back associated with morning stiffness lasting about an hour and improving with
exercise began. His son also has hereditary multiple exostoses but has no sign of AS. HME is an autosomal dominant disorder.
AS has a remarkably strong association with the histocompatibility antigen HLA-B27. Owing to the different genetic mechanisms,
it is not possible to differentiate between coincidence and association. Coexistence of HME and AS in our patient probably
represents a coincidence rather than a real association.
Received: 4 September 1998 / Accepted: 4 April 1999 相似文献
66.
An interdisciplinary and international group of clinicians and scientists gathered in Philadelphia, PA, to attend the fourth International Research Conference on Multiple Hereditary Exostoses (MHE), a rare and severe skeletal disorder. MHE is largely caused by autosomal dominant mutations in EXT1 or EXT2, genes encoding Golgi-associated glycosyltransferases responsible for heparan sulfate (HS) synthesis. HS chains are key constituents of cell surface- and extracellular matrix-associated proteoglycans, which are known regulators of skeletal development. MHE affected individuals are HS-deficient, can display skeletal growth retardation and deformities, and consistently develop benign, cartilage-capped bony outgrowths (termed exostoses or osteochondromas) near the growth plates of many skeletal elements. Nearly 2% of patients will have their exostoses progress to malignancy, becoming peripheral chondrosarcomas. Current treatments are limited to the surgical removal of symptomatic exostoses. No definitive treatments have been established to inhibit further formation and growth of exostoses, prevent transition to malignancy, or address other medical problems experienced by MHE patients, including chronic pain. Thus, the goals of the Conference were to assess our current understanding of MHE pathogenesis, identify key gaps in information, envision future therapeutic strategies and discuss ways to test and implement them. This report provides an assessment of the exciting and promising findings in MHE and related fields presented at the Conference and a discussion of the future MHE research directions. The Conference underlined the critical usefulness of gathering experts in several research fields to forge new alliances and identify cross-fertilization areas to benefit both basic and translational biomedical research on the skeleton. 相似文献
67.
68.
We present cases of cervical cord compression in father and son with diaphyseal aclasia. Both patients were investigated with plain radiography, CT and MRI. We believe this to be the first report of spinal cord compression in first-degree relatives with diaphyseal aclasia. 相似文献
69.
Hereditary multiple exostoses(HME) are an autosomal dominant skeletal disease with wide variations in clinical manifestations among different ethnic groups. This study investigated the epidemiology, clinical presentations, pathogenetic features and treatment strategies of HME in mainland China. We searched and reviewed the related cases published since 1990 by searching electronic databases, namely SinoMed database, Wanfang database, CNKI, Web of Science and PubMed as well as Google search engines. A total of 1051 cases of HME(male-to-female ratio 1.5:1) were investigated and the diagnosis was made in 83% before the age of 10 years. Approximately 96% patients had a family history. Long bones, ribs, scapula and pelvis were the frequently affected sites. Most patients were asymptomatic with multiple palpable masses. Common complications included angular deformities, impingement on neighbouring tissues and impaired articular function. Chondrosarcomas transformation occurred in 2% Chinese cases. Among the cases examined, about 18% had mutations in EXT1 and 28% in EXT2. Frameshift, nonsense and missense mutations represented the majority of HME-causing mutations. Diagnosis of HME was made based on the clinical presentations and radiological documentations. Most patients needed no treatment. Surgical treatment was often directed to remove symptomatic exostoses, particularly those of suspected malignancy degeneration, and correction of skeletal deformities. This study shows some variance from current literature regarding other ethnic populations and may provide valuable baseline assessment of the natural history of HME in mainland China. 相似文献
70.
目的研究遗传性多发性骨软骨瘤(hereditary multiple osteochondroma,HMO)影像特点。方法分析经病理证实不同年龄、不同部位的56例HMO影像及家族史。结果56例患有HMO疾病患者中,男38例,女18例,其中胫骨及股骨多发,并且对称存在约18例,双手及腕关节次之10例,肱骨为4例,尺桡骨为9例,肋骨3例,骨盆为9例,肩胛骨7例;跟骨部位最少1例。结论遗传性多发性骨软骨瘤是一种常见的骨良性肿瘤,以股骨下端和胫骨上端好发,其次为长骨端,其有典型遗传倾向,瘤骨发生部位具有家族倾向性。 相似文献