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51.
Arroyo HA De Rosa S Ruggieri V de Dávila MT Fejerman N;Argentinean Epilepsy Celiac Disease Group 《Journal of child neurology》2002,17(11):800-806
The association of epilepsy, occipital calcifications, and celiac disease has been recognized as a distinct syndrome. The objective of this study was to present the clinical, electrophysiologic, and neuroradiologic features in a series of patients with this syndrome. Thirty-two patients with the constellation of epilepsy, occipital calcifications, and celiac disease were identified in our epilepsy clinic. The mean age was 11 years and the mean length of follow-up was 7.4 years. The 1990 criteria of the European Society of Pediatric Gastroenterology and Nutrition were used to diagnose celiac disease. The Kruskal-Wallis statistics test was employed with a signficance of P < .05. Thirty-one patients had partial seizures, 21 of them with symptoms related to the occipital lobe. In most patients, the epilepsy was controlled or the seizures were sporadic. Three developed severe epilepsy. Occipital calcifications were present in all cases. Computed tomography in 7 patients showed hypodense areas in the white matter around calcifications, which decreased or disappeared after a period of gluten-free diet in 3 patients. A favorable outcome of epilepsy was detected in patients with the earliest dietary therapy. This study presents the largest series of children with this syndrome outside Italy. White-matter hypodensities surrounding calcifications are rarely reported. A prompt diagnosis of celiac disease might improve the evolution of the epilepsy and may improve cognitive status. 相似文献
52.
Dose-dependent protective effects of apomorphine against methamphetamine-induced nigrostriatal damage 总被引:6,自引:0,他引:6
(R)-apomorphine is a non-selective dopamine (DA) agonist which is used in the treatment of Parkinson's disease. In addition to symptomatic effects, apomorphine exerts a neuroprotective activity in specific experimental models. For instance, apomorphine prevents experimental parkinsonism induced by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Neuroprotection obtained with apomorphine does not seem to be related to its dopamine (DA) agonist properties, instead it appears to be grounded on the antioxidant and the free radical scavenging effects of the compound. In this study, we sought to determine whether apomorphine protects against methamphetamine toxicity. We found that apomorphine (1; 5 and 10 mg/kg) dose-dependently protects against methamphetamine- (5 mg/kg X3, 2 h apart) induced striatal DA loss and reduction of tyrosine hydroxylase (TH) activity in the rat striatum. These protective effects are neither due to a decrease in the amount of striatal methamphetamine nor to hypothermia as indicated by measurement of striatal methamphetamine and body temperature at different time intervals after drug administration. The effects of apomorphine were neither opposite to, nor reversed by the DA antagonist haloperidol despite no decrease in body temperature was observed when apomorphine was given in combination with haloperidol. The present data are in line with recent studies suggesting a DA receptor-independent neuroprotective effect of apomorphine on DA neurons and call for further studies aimed at evaluating potential neuroprotective effects of apomorphine in Parkinson's disease. 相似文献
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54.
Biagini R Ruggieri P Briccoli A Fasano D Montanari FM Gamberini G Perin S Mercuri M 《La Chirurgia degli Organi di Movimento》2001,86(1):1-5
The authors describe the method used to reconstruct the posterior wall of the pelvis using a flap taken from the rectus abdominis muscle after resection of the sacrum to treat neoplasm. 相似文献
55.
Ruggieri M 《European journal of pediatrics》2000,159(10):745-749
The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other
congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6
and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor
delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions
on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative.
In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin
lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate
pigmentation.
Conclusion This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such
association in the other confirms and further expands the clinical phenotype of cutis tricolor.
Received: 9 December 1999 and in revised form: 10 April 2000 / Accepted: 11 April 2000 相似文献
56.
Ruggieri M D'Arrigo G Abbate M Distefano A Upadhyaya M 《European journal of pediatrics》2000,159(7):477-480
A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1
(NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary
arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and
three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant
peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous
cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction.
Conclusion To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected
by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.
Received: 11 November 1999 and in revised form: 9 January 2000 / Accepted: 9 January 2000 相似文献
57.
A series of five cases of sacral aneurysmal bone cyst is presented. There were three females and two males, the youngest patient being 11 years old, the oldest 41 years old. All patients had pain of long duration with varying signs of nerve root compression. Three patients had micturitional problems. Four patients had a palpable mass which was tender. All had standard radiographs. Tomograms, computed tomography (CT) scans or MRI (magnetic resonance imaging) were obtained in some patients. In all patients a definite histologic diagnosis was established. Four lesions healed after resection (two cases) or curettage (two cases). One patient is considered to have a stable lesion which is not progressing.Supported in part by Speical Project Oncology, National Council for Research grant no 87.02810.44 相似文献
58.
59.
60.
Giuseppe?MagliuloEmail author Serena?Bertin Marzia?Ruggieri Mario?Gagliardi 《European archives of oto-rhino-laryngology》2005,262(8):627-630
Benign paroxysmal positional vertigo is probably the most common cause of vertigo. It is characterized by acute short-lived episodes of severe vertigo in association with change in the position of the head. This condition is benign, and after the repositioning procedure, the cure rate is between 70 to 80%. Numerous studies describe the association between vertigo and social handicap and emotional disturbance. In our study, we report for the first time the level of anxiety and social consequences, tested with the Hamilton anxiety scale and vertigo handicap questionnaire, in a group of patients who had suffered only from positional vertigo and were clinically cured when the questionnaires and test were administered. The important role played by psychological factors in maintaining or increasing the social consequences and perception of vertigo is revealed in this study. 相似文献