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排序方式: 共有129条查询结果,搜索用时 46 毫秒
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Jaffer F Murphy SM Scoto M Healy E Rossor AM Brandner S Phadke R Selcen D Jungbluth H Muntoni F Reilly MM 《Journal of the peripheral nervous system : JPNS》2012,17(2):210-216
Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in previously reported cases of BAG3-associated myofibrillar myopathy and in some cases giant axons were observed on nerve biopsies; however, neuropathy was not thought to be a dominant feature of the disease. In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease. Here, we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy. Muscle magnetic resonance imaging (MRI) in one patient revealed mild to moderate atrophy without prominent selectivity. Examination of sural nerve biopsies in two patients demonstrated giant axons. This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature. 相似文献
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Predictors of Future Atrial Fibrillation Development in Patients with Hypertrophic Cardiomyopathy: A Prospective Follow‐Up Study 下载免费PDF全文
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Serdar Suleyman Can G?rkem Karaka? U?urlu Selcen ?akmak 《Psychiatry investigation》2014,11(3):336-339
Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant. 相似文献
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Tiro Mmopelwa Selim Ayhan Selcen Yuksel Vugar Nabiyev Asli Niyazi Ferran Pellise Ahmet Alanay Francisco Javier Sanchez Perez Grueso Frank Kleinstuck Ibrahim Obeid Emre Acaroglu 《Acta orthopaedica et traumatologica turcica》2018,52(3):179-184
Objectives
To identify the factors that affect SF-36 mental component summary (MCS) in patients with adult spinal deformity (ASD) at the time of presentation, and to analyse the effect of SF-36 MCS on clinical outcomes in surgically treated patients.Methods
Prospectively collected data from a multicentric ASD database was analysed for baseline parameters. Then, the same database for surgically treated patients with a minimum of 1-year follow-up was analysed to see the effect of baseline SF-36 MCS on treatment results. A clinically useful SF-36 MCS was determined by ROC Curve analysis.Results
A total of 229 patients with the baseline parameters were analysed. A strong correlation between SF-36 MCS and SRS-22, ODI, gender, and diagnosis were found (p < 0.05). For the second part of the study, a total of 186 surgically treated patients were analysed. Only for SF-36 PCS, the un-improved cohort based on minimum clinically important differences had significantly lower mean baseline SF-36 MCS (p < 0.001). SF-36 MCS was found to have an odds ratio of 0.914 in improving SF-36 PCS score (unit by unit) (p < 0.001). A cut-off point of 43.97 for SF-36 MCS was found to be predictive of SF-36 PCS (AUC = 0.631; p < 0.001).Conclusions
The factors effective on the baseline SF-36 MCS in an ASD population are other HRQOL parameters such as SRS-22 and ODI as well as the baseline thoracic kyphosis and gender. This study has also demonstrated that baseline SF-36 MCS does not necessarily have any effect on the treatment results by surgery as assessed by SRS-22 or ODI.Level of evidence
Level III, prognostic study. 相似文献40.
Gurgun A Tuluce K Tuluce SY Gurgun C Bayraktaroglu S Tombuloglu M Cinar CS 《Echocardiography (Mount Kisco, N.Y.)》2011,28(9):E180-E182
A 45-year-old man presented with dyspnea on exertion, fatigue, and cough. Transthoracic echocardiography showed a large apical thrombus in the left ventricle. The laboratory results showed prominent eosinophilia on blood smear, elevated acute phase reactants and D-dimer serum levels. Bone marrow examination showed a Fip1-like platelet-derived growth factor receptor alfa fusion gene mutation. The case was diagnosed as myeloproliferative variant hypereosinophilic syndrome. Contrast-enhanced computed tomography demonstrated thrombi not only in left ventricle but also in multiple segmental pulmonary arteries. Cardiac magnetic resonance imaging showed left ventricular apical thrombus without subendocardial fibrosis. Cardiopulmonary manifestations of hypereosinophilic syndrome completely resolved after treatment. 相似文献