全文获取类型
收费全文 | 1731篇 |
免费 | 130篇 |
国内免费 | 34篇 |
专业分类
耳鼻咽喉 | 7篇 |
儿科学 | 79篇 |
妇产科学 | 5篇 |
基础医学 | 362篇 |
口腔科学 | 2篇 |
临床医学 | 80篇 |
内科学 | 93篇 |
皮肤病学 | 3篇 |
神经病学 | 1010篇 |
特种医学 | 22篇 |
外科学 | 21篇 |
综合类 | 63篇 |
现状与发展 | 1篇 |
预防医学 | 12篇 |
眼科学 | 24篇 |
药学 | 64篇 |
中国医学 | 7篇 |
肿瘤学 | 40篇 |
出版年
2024年 | 4篇 |
2023年 | 45篇 |
2022年 | 38篇 |
2021年 | 78篇 |
2020年 | 60篇 |
2019年 | 72篇 |
2018年 | 54篇 |
2017年 | 38篇 |
2016年 | 60篇 |
2015年 | 46篇 |
2014年 | 98篇 |
2013年 | 97篇 |
2012年 | 68篇 |
2011年 | 86篇 |
2010年 | 87篇 |
2009年 | 92篇 |
2008年 | 105篇 |
2007年 | 83篇 |
2006年 | 81篇 |
2005年 | 72篇 |
2004年 | 53篇 |
2003年 | 52篇 |
2002年 | 55篇 |
2001年 | 36篇 |
2000年 | 29篇 |
1999年 | 35篇 |
1998年 | 37篇 |
1997年 | 26篇 |
1996年 | 24篇 |
1995年 | 21篇 |
1994年 | 21篇 |
1993年 | 11篇 |
1992年 | 11篇 |
1991年 | 13篇 |
1990年 | 8篇 |
1989年 | 14篇 |
1988年 | 12篇 |
1987年 | 10篇 |
1986年 | 6篇 |
1985年 | 12篇 |
1984年 | 8篇 |
1983年 | 6篇 |
1982年 | 5篇 |
1981年 | 8篇 |
1980年 | 4篇 |
1979年 | 4篇 |
1978年 | 3篇 |
1969年 | 3篇 |
1968年 | 1篇 |
1967年 | 1篇 |
排序方式: 共有1895条查询结果,搜索用时 171 毫秒
81.
Spinocerebellar ataxia type 3/Machado–Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions 下载免费PDF全文
G.N. Souza N. Kersting A.C. Krum‐Santos A.S.P. Santos G.V. Furtado D. Pacheco T.A. Gonçalves J.A. Saute L. Schuler‐Faccini E.P. Mattos M.L. Saraiva‐Pereira L.B. Jardim 《Clinical genetics》2016,90(2):134-140
Controversies about Mendelian segregation and CAG expansion (CAGexp) instabilities during meiosis in spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) need clarification. Additional evidence about these issues was obtained from the cohort of all SCA3/MJD individuals living in South Brazil. A survey was carried out to update information registered since 2001. Deaths were checked with the Public Information System, and data was made anonymous. Anticipation and delta‐CAGexp from parent–offspring pairs, and delta‐CAGexp between siblings were obtained. One hundred and fifty‐nine families (94% of the entire registry) were retrieved, comprising 3725 living individuals as of 2015, 625 of these being symptomatic. Minimal prevalence was 6:100,000. Carriers of a CAGexp represented 65.6% of sibs in the genotyped offspring (p < 0.001). Median instability was larger among paternal than maternal transmissions, and instabilities correlated with anticipation (r = 0.38; p = 0.001). Age of the parent correlated to delta‐CAGexp among 115 direct parent–offspring CAGexp transmissions (ρ = 0.23, p = 0.014). In 98 additional kindreds, the delta‐CAGexp between 269 siblings correlated with their delta‐of‐age (ρ = 0.27, p < 0.0001). SCA3/MJD was associated with a segregation distortion favoring the expanded allele in our cohort. Instability of expansion during meiosis was weakly influenced by the age of the transmitting parent at the time of conception. 相似文献
82.
ATM,THMS, and RRM1 protein expression in nasopharyngeal carcinomas treated with curative intent 下载免费PDF全文
Jenny Jaeeun Ko MD FRCPC Alexander C. Klimowicz PhD Amanda Jagdis MD Tien Phan MD FRCPC Janessa Laskin MD FRCPC Harold Y. Lau MD FRCPC Jodi E. Siever MSc Stephanie K. Petrillo MSc Thomas A. Thomson MD FRCPC M. Sarah Rose PhD Gwyn Bebb MBMCh PhD FRCPC Anthony M. Magliocco MD FRCPC FCAP Desirée Hao MD FRCPC 《Head & neck》2016,38(Z1):E384-E391
83.
Bares M Lungu O Liu T Waechter T Gomez CM Ashe J 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2007,180(2):355-365
The ability to precisely time events is essential for both perception and action. There is evidence that the cerebellum is
important for the neural representation of time in a variety of behaviors including time perception, the tapping of specific
time intervals, and eye-blink conditioning. It has been difficult to assess the contribution of the cerebellum to timing during
more dynamic motor behavior because the component movements themselves may be abnormal or any motor deficit may be due to
an inability to combine the component movements into a complete action rather than timing per se. Here we investigated the
performance of subjects with cerebellar disease in predictive motor timing using a task that involved mediated interception
of a moving target, and we tested the effect of movement type (acceleration, deceleration, constant), speed (slow, medium,
fast), and angle (0°, 15° and 30°) on performance. The subjects with cerebellar damage were significantly worse at interception
than healthy controls even when we controlled for basic motor impairments such as response time. Our data suggest that subjects
with damage to the cerebellum have a fundamental problem with predictive motor timing and indicate that the cerebellum plays
an essential role in integrating incoming visual information with motor output when making predictions about upcoming actions.
The findings demonstrate that the cerebellum may have properties that would facilitate the processing or storage of internal
models of motor behavior. 相似文献
84.
目的:比较不同方法治疗急性小脑梗塞后小脑共济失调的疗效。方法:将我院确诊的急性小脑梗塞后小脑共济失调患者80例随机分为以下四组,每组20例。 A组:常规药物治疗组(补充B族维生素、胞二磷胆碱、抗血小板药物和对症支持治疗);B组:常规药物治疗组+功能性电刺激;C组:常规药物治疗组+作业疗法;D组:常规药物治疗组+功能性电刺激+作业疗法。结果:B组、C组和D组的疗效明显高于A组(P〈0.05);D组的疗效最为明显,高于其他三组(P〈0.05)。结论:单独或联合使用功能性电刺激和/或作业疗法治疗急性小脑梗塞后小脑共济失调的疗效明显高于常规药物组,而联合使用功能性电刺激和作业疗法的治疗效果最为明显。 相似文献
85.
《Journal of clinical neuroscience》2014,21(6):1002-1006
This study aimed to determine the prevalence and type of extrapyramidal signs (EPS) in spinocerebellar ataxia (SCA) type 1, 2 and 3. Eighty-five patients with genetically confirmed SCA (SCA1 = 40, SCA2 = 28, SCA3 = 17) were evaluated for the prevalence and types of EPS. Forty-one SCA patients (48.2%) had one or more types of EPS. The prevalence of EPS was 60.7% in SCA2, 52.9% in SCA3, and 37.5% in SCA1. Among SCA2 patients, bradykinesia was the most frequent (35.3%), followed by reduced facial expression, postural tremor and dystonia (29.4% each), rest tremor, titubation and rigidity (23.5% each), and lip/jaw tremor and chorea (11.8% each). In SCA3 the common EPS were bradykinesia (44.4%), staring look, postural tremor and dystonia (33.3% each), and reduced facial expression and rigidity (22.2% each). In SCA1, staring look was the most common (53.3%), followed by dystonia and bradykinesia (33.3% each), and postural tremor (26.7%). In all three groups, there was no significant difference in the mean length of repeat of the abnormal allele between those with and without EPS. To conclude bradykinesia, staring look, dystonia and postural tremor were the most frequent EPS observed in SCA. In SCA1, these signs were seen more often in younger patients with early onset of symptoms. 相似文献
86.
Martje E. van Egmond MD Corien C. Verschuuren‐Bemelmans MD Esther A. Nibbeling MSc Jan Willem J. Elting MD PhD Deborah A. Sival MD PhD Oebele F. Brouwer MD PhD Jeroen J. de Vries MD Hubertus P. Kremer MD PhD Richard J. Sinke PhD Marina A. Tijssen MD PhD Tom J. de Koning MD PhD 《Movement disorders》2014,29(1):139-143
87.
Supratentorial and infratentorial damage in spinocerebellar ataxia 2: A diffusion‐weighted MRI study
Elena Salvatore MD PhD Enrico Tedeschi MD Carmine Mollica MD PhD Caterina Vicidomini PhD Andrea Varrone MD PhD Anna Rita Daniela Coda MSc Arturo Brunetti MD Marco Salvatore MD Giuseppe De Michele MD Alessandro Filla MD Sabina Pappatà MD 《Movement disorders》2014,29(6):780-786
Spinocerebellar ataxia type 2 (SCA2) is an autosomal‐dominant degenerative disorder that is neuropathologically characterized primarily by infratentorial damage, although less severe supratentorial involvement may contribute to the clinical manifestation. Diffusion‐weighted imaging (DWI)–Magnetic Resonance Imaging (MRI) studies of SCA2 have enabled in vivo quantification of neurodegeneration in infratentorial regions, whereas supratentorial regions have been explored less thoroughly. We measured microstructural changes in both infratentorial and supratentorial regions in 13 SCA2 patients (9 men, 4 women; mean age, 50 ± 12 years) and 15 controls (10 men, 5 women; mean age, 49 ± 14 years) using DWI‐MRI and correlated the DWI changes with disease severity and duration. Disease severity was evaluated using the International Cooperative Ataxia Rating Scale and the Inherited Ataxia Clinical Rating Scale. Cerebral diffusion trace ( ) values were generated, and regions of interest (ROIs) and voxel‐based analysis with Statistical Parametric Mapping (SPM) were used for data analysis. In SCA2 patients, ROI analysis and SPM confirmed significant increases in values in the pons, cerebellar white matter (CWM) and middle cerebellar peduncles. Moreover, SPM analysis revealed increased values in the right thalamus, bilateral temporal cortex/white matter, and motor cortex/pyramidal tract regions. Increased diffusivity in the frontal white matter (FWM) and the CWM was significantly correlated with ataxia severity. DWI‐MRI revealed that both infratentorial and supratentorial microstructural changes may characterize SCA2 patients in the course of the disease and might contribute to the severity of the symptoms. © 2013 International Parkinson and Movement Disorder Society 相似文献
88.
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
89.
Christos Ganos MD Panagiotis Kassavetis MD Roberto Erro MD Mark J. Edwards MD John Rothwell PhD Kailash P. Bhatia MD FRCP 《Movement disorders》2014,29(4):437-443
The putative involvement of the cerebellum in the pathogenesis of cortical myoclonic syndromes has been long hypothesized, as neuropathological changes in patients with cortical myoclonus have most commonly been found in the cerebellum rather than in the suspected culprit, the primary somatosensory cortex. A model of increased cortical excitability due to loss of cerebellar inhibitory control via cerebello‐thalamo‐cortical connections has been proposed, but evidence remains equivocal. Here, we explore this hypothesis by examining syndromes that present with cortical myoclonus and ataxia. We first describe common clinical characteristics and underlying neuropathology. We critically view information on cerebellar physiology with regard to motorcortical output and compare findings between hypothesized and reported neurophysiological changes in conditions with cortical myoclonus and ataxia. We synthesize knowledge and focus on neurochemical changes in these conditions. Finally, we propose that the combination of alterations in inhibitory neurotransmission and the presence of cerebellar pathology are important elements in the pathogenesis of cortical myoclonus. © 2014 Movement Disorder Society 相似文献
90.
Sandra Mastroianno MD Michele Germano MD Angela Maggio MD Raimondo Massaro MD Domenico Rosario Potenza MD Aldo Russo MD Massimo Carella PhD Giuseppe Di Stolfo MD PhD 《Annals of noninvasive electrocardiology》2021,26(4):e12813
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; cardiac involvement is represented by hypertrophic cardiomyopathy, ventricular arrhythmias, and sudden cardiac deaths. Currently, no definite therapy is available, while many drugs are under investigation; for this reasons, we need markers of short- and long-term treatment efficacy acting on different tissue for trial evaluation. We describe the case of a 21-year-old patient affected by Friedreich's ataxia on wheel-chair, with initial cardiac involvement and electrocardiographic features characterized by thiamine treatment-related negative T wave and QTc variations. We discuss plausible physiopathology and potential ECG role implications as an intermediate marker of treatment response in future clinical trials considering patients affected by Friedreich's ataxia. 相似文献