全文获取类型
收费全文 | 314篇 |
免费 | 7篇 |
专业分类
耳鼻咽喉 | 42篇 |
儿科学 | 31篇 |
妇产科学 | 13篇 |
基础医学 | 25篇 |
口腔科学 | 6篇 |
临床医学 | 12篇 |
内科学 | 65篇 |
皮肤病学 | 1篇 |
神经病学 | 74篇 |
特种医学 | 8篇 |
外科学 | 8篇 |
综合类 | 1篇 |
预防医学 | 2篇 |
药学 | 6篇 |
肿瘤学 | 27篇 |
出版年
2023年 | 1篇 |
2022年 | 3篇 |
2021年 | 1篇 |
2020年 | 1篇 |
2019年 | 2篇 |
2018年 | 1篇 |
2017年 | 1篇 |
2016年 | 1篇 |
2015年 | 1篇 |
2014年 | 7篇 |
2013年 | 8篇 |
2012年 | 19篇 |
2011年 | 15篇 |
2010年 | 5篇 |
2009年 | 3篇 |
2008年 | 17篇 |
2007年 | 19篇 |
2006年 | 20篇 |
2005年 | 17篇 |
2004年 | 10篇 |
2003年 | 14篇 |
2002年 | 13篇 |
2001年 | 9篇 |
2000年 | 17篇 |
1999年 | 10篇 |
1998年 | 2篇 |
1997年 | 4篇 |
1996年 | 7篇 |
1995年 | 3篇 |
1994年 | 4篇 |
1993年 | 1篇 |
1992年 | 4篇 |
1991年 | 9篇 |
1990年 | 6篇 |
1989年 | 9篇 |
1988年 | 12篇 |
1987年 | 6篇 |
1986年 | 3篇 |
1985年 | 4篇 |
1984年 | 3篇 |
1983年 | 1篇 |
1982年 | 3篇 |
1980年 | 8篇 |
1979年 | 8篇 |
1978年 | 4篇 |
1977年 | 1篇 |
1975年 | 2篇 |
1973年 | 1篇 |
1971年 | 1篇 |
排序方式: 共有321条查询结果,搜索用时 15 毫秒
11.
Yael Lahav David Levy Avi Ohry Gabi Zeilig Meir Lahav Hava Golander Anat-Chacham Guber Orit Uziel Ruth Defrin 《The journal of pain》2021,22(2):209-218
Chronic pain induces a multitude of harmful effects; recently it has been suggested that chronic pain is also associated with premature aging, manifested in shortened telomere length (TL). However, evidence for this hypothesis is scarce and inconsistent. The aim was twofold: 1) Investigate whether chronic pain is associated with premature aging, and 2) Determine whether physical exercise (PE) moderates this association if it exists. Participants were 116 male subjects, with (n = 67) and without chronic pain (n = 49). Blood samples for TL analysis were collected and participants were interviewed and completed questionnaires. As a part of the cohort, we included people with physical disability; this variable was controlled in the analysis. The TL of individuals with chronic pain was significantly shorter than that of pain-free individuals. Regression analysis revealed a significant moderating effect of PE on chronic pain and TL, above and beyond the effects of disability, age, and weight. Whereas chronic pain was associated with shorter telomeres in participants who did not exercise, this association was nonsignificant among participants who did exercise. The results suggest that chronic pain is associated with premature ageing; however, PE may mitigate this association and may protect individuals against the harmful effects of chronic pain.PerspectiveThe study suggests that it is important to monitor signs of premature ageing among chronic pain patients as they are at risk. However, chronic pain patients may benefit from regular PE in this respect as it may moderate premature ageing. 相似文献
12.
13.
Ettore Salsano Laura Farina Costanza Lamperti Giuseppe Piscosquito Franco Salerno Lucia Morandi Franco Carrara Eleonora Lamantea Massimo Zeviani Graziella Uziel Mario Savoiardo Davide Pareyson 《Journal of neurology》2013,260(6):1617-1623
Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A ‘leukodystrophic’ pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a ‘leukodystrophic’ pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a ‘leukodystrophic’ pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder. 相似文献
14.
Michelangelo Mancuso Daniele Orsucci Corrado Angelini Enrico Bertini Michela Catteruccia Elena Pegoraro Valerio Carelli Maria L. Valentino Giacomo P. Comi Carlo Minetti Claudio Bruno Maurizio Moggio Elena Caldarazzo Ienco Tiziana Mongini Liliana Vercelli Guido Primiano Serenella Servidei Paola Tonin Mauro Scarpelli Antonio Toscano Olimpia Musumeci Isabella Moroni Graziella Uziel Filippo M. Santorelli Claudia Nesti Massimiliano Filosto Costanza Lamperti Massimo Zeviani Gabriele Siciliano 《Movement disorders》2014,29(6):722-728
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation of the prevalence of myoclonus in a big cohort of mitochondrial patients and the clinical characterization of these subjects. Based on the database of the “Nation‐wide Italian Collaborative Network of Mitochondrial Diseases,” we reviewed the clinical and molecular data of mitochondrial patients with myoclonus among their clinical features. Myoclonus is a rather uncommon clinical feature of mitochondrial diseases (3.6% of 1,086 patients registered in our database). It is not strictly linked to a specific genotype or phenotype, and only 1 of 3 patients with MERRF harbors the 8344A>G mutation (frequently labeled as “the MERRF mutation”). Finally, myoclonus is not inextricably linked to epilepsy in MERRF patients, but more to cerebellar ataxia. In a myoclonic patient, evidences of mitochondrial dysfunction must be investigated, even though myoclonus is not a common sign of mitochondriopathy. Clinical, histological, and biochemical data may predict the finding of a mitochondrial or nuclear DNA mutation. Finally, this study reinforces the notion that myoclonus is not inextricably linked to epilepsy in MERRF patients, and therefore the term “myoclonic epilepsy” seems inadequate and potentially misleading. © 2014 International Parkinson and Movement Disorder Society 相似文献
15.
From the Cover: Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Efrat Gabai-Kapara Amnon Lahad Bella Kaufman Eitan Friedman Shlomo Segev Paul Renbaum Rachel Beeri Moran Gal Julia Grinshpun-Cohen Karen Djemal Jessica B. Mandell Ming K. Lee Uziel Beller Raphael Catane Mary-Claire King Ephrat Levy-Lahad 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(39):14205-14210
In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2. For carriers of these mutations, risk-reducing salpingo-oophorectomy significantly reduces morbidity and mortality. Population screening for these mutations among AJ women may be justifiable if accurate estimates of cancer risk for mutation carriers can be obtained. We therefore undertook to determine risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained irrespective of personal or family history of cancer. Families harboring mutations in BRCA1 or BRCA2 were ascertained by identifying mutation carriers among healthy AJ males recruited from health screening centers and outpatient clinics. Female relatives of the carriers were then enrolled and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 0.60 (± 0.07) and 0.83 (± 0.07) for BRCA1 carriers and 0.33 (± 0.09) and 0.76 (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts (P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who are not evaluated by genetic testing based on family history criteria. Such a program could serve as a model to investigate implementation and outcomes of population screening for genetic predisposition to cancer in other populations.Inherited mutations in BRCA1 and BRCA2 predispose to high risks of breast and ovarian cancer. Among female mutation carriers, presymptomatic surgical measures significantly reduce morbidity and mortality (1, 2). In particular, risk-reducing salpingo-oophorectomy (i.e., the removal of ovaries and fallopian tubes from a woman without ovarian cancer) reduces risk both of breast cancer and of ovarian cancer, as well as overall mortality (1). However, for many mutation carriers identified following their first cancer diagnosis, genetic testing was not previously indicated because family history did not suggest inherited cancer predisposition (3–5, 6). From a prevention perspective, it is a missed opportunity to identify a woman as a BRCA1 or BRCA2 mutation carrier only after she develops cancer.Among Ashkenazi (European) Jews (AJ), three mutations, BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT, account for the great majority of inherited cancer risk due to BRCA1 and BRCA2 (7). In the AJ population, 2.5% of persons carry one of these three mutations (8), and the mutations account for 11% of breast cancer (3) and 40% of ovarian cancer (9, 10). These observations suggest that genetic testing in the AJ population for these mutations fulfills WHO criteria for population screening (11, 12): The disease is an important public health burden to the target population; prevalence and attributable risk of disease due to the mutations are known; and effective interventions exist. However, one necessary piece of information remains unknown: What is the disease risk to mutation carriers ascertained from the general population, rather than carriers identified based on family history (13)?Previous studies assessing cancer risks due to mutations in BRCA1 and BRCA2 ascertained carriers through high-incidence families (14), through a single index case with breast or ovarian cancer (3, 15) or through both affected and unaffected carriers (16). In a 1997 study of AJ volunteers, most index cases had no previous cancer diagnosis, but the percentage of index cases with a family history of breast cancer was approximately double that of unselected AJs (17). In principle, these strategies could have yielded risk estimates different from those of carriers ascertained from the local host population, if cancer risk in BRCA1 or BRCA2 carriers were influenced by familial factors other than the BRCA1 or BRCA2 mutation, such as modifier genes or shared environment (18). In addition, in almost all of these studies, risk estimates were based on imputing carrier status, rather than on direct genetic testing of BRCA1 and BRCA2. This year, the Recommendation Statement on BRCA Testing from the US Preventive Services Task Force recommended against population screening for BRCA1 and BRCA2 mutations, because cancer risk to mutation carriers in the general population was not yet known (19). To address this gap, in this study we assessed breast and ovarian cancer risks in confirmed carriers of BRCA1 and BRCA2 mutations ascertained from the general population. The study was undertaken in the AJ population, because screening for only three founder mutations is sufficient to capture nearly all inherited cancer risk in this population due to BRCA1 and BRCA2 (7). 相似文献
16.
Aim: Dentistry is a stressful and exhausting profession with high levels of burnout. Sensory processing sensitivity (SPS) is a basic personality trait characterised by a gradient of sensitivity to both internal and external stimuli, including social and emotional cues. In this study, the influence of SPS on burnout and professional quality of life among Israeli dentists was analysed. Methods: Two-hundred and forty-three Israeli dentists responded to questionnaires that collected information on their SPS and professional quality of life (burnout, satisfaction at work and level of secondary traumatic stress), as well demographic variables, professional specialisation and workload. Results: Linear regression analyses showed that burnout can be predicted by the three aspects of SPS (ease of excitation, low sensory threshold and aesthetic sensitivity; 32% of the variance). Additionally, the same three aspects of SPS also predicted dentists’ satisfaction at work (24% of the variance). Ease of excitation and low sensory threshold, but not aesthetic sensitivity, predicted dentists’ reaction to their patients’ stress and trauma (23% of the variance). Conclusions: Sensory processing sensitivity can serve as a tool to identify dentists who are prone to develop burnout and whose professional quality of life can be adversely affected by their profession.Key words: Dentistry, sensory processing sensitivity, burnout, secondary traumatic stress, professional quality of life, compassion satisfaction 相似文献
17.
L. Chiapparini G. Uziel C. Vallinoto M. G. Bruzzone A. Rovelli G. Tricomi A. Bizzi N. Nardocci C. Rizzari M. Savoiardo 《Neurological sciences》2011,32(3):473-477
Hemophagocytic lymphohistiocytosis (HLH) is a rare disease with rarer neurological presentation. When this occurs, diagnosis
may be delayed. This report aims to call attention to clinical, laboratory, and radiological features that should prompt the
correct diagnosis. A 13-year-old girl presented with progressive increase in intracranial pressure and ataxia. MRI showed
a diffuse tumor-like swelling of the cerebellum with tonsillar herniation and patchy white matter post-contrast enhancement.
Regression of swelling with steroids ruled out glioma and medulloblastoma, and brain lymphoma was considered. Diagnosis of
HLH was reached 2 months after onset when uncontrolled fever and severe elevation of liver enzymes occurred. Two bone marrow
biopsies were needed to demonstrate hemophagocytosis. Familial HLH was confirmed by perforin gene mutations. Bone marrow transplantation
was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic
findings, thus avoiding a delay in diagnosis. 相似文献
18.
Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis 总被引:1,自引:0,他引:1
L. D. Notarangelo O. Parolini G. Baiguini F. Buzi C. Paterlini A. Perini M. Rimoldi S. Tiberti G. Uziel Lucia Notarangelo G. Camerino A. G. Ugazio 《European journal of pediatrics》1992,151(10):761-763
Diagnosis of X-linked adrenoleukodystrophy is based upon demonstration of high levels of very long chain fatty acids. More recently, in addition to biochemical analysis, closely linked DNA probe St14 has been used for prenatal diagnosis in informative families. Identification of heterozygotes is particularly important, both in order to specifically address only carrier females to prenatal diagnosis, and because appropriate dietary therapy is now available to treat those heterozygotes presenting with neurological symptoms. We report two pedigrees in which carrier detection was performed by a combination of biochemical and molecular genetic analysis. Such approach should allow extremely high accuracy in carrier detection. 相似文献
19.
Szyper-Kravitz M Uziel O Shapiro H Radnay J Katz T Rowe JM Lishner M Lahav M 《British journal of haematology》2003,120(2):329-336
20.
Moroni I Bedeschi F Luksch R Casanova M D'Incerti L Uziel G Selicorni A 《Clinical dysmorphology》2000,9(4):265-268
Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and perianal papillomata. Heart malformations and/or hypertrophic cardiomyopathy are frequently observed. We report a 4-year-old girl with Costello syndrome who developed an intrathoracic ganglioneuroblastoma. In previous reports two patients with ectodermal tumours have been described, a ganglioneuroblastoma of the adrenal gland and an epithelioma. This third report suggests that neural crest neoplasia may be a significant risk factor for children with Costello syndrome. 相似文献