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91.
Luciani P Ferruzzi P Arnaldi G Crescioli C Benvenuti S Nesi G Valeri A Greeve I Serio M Mannelli M Peri A 《The Journal of clinical endocrinology and metabolism》2004,89(3):1332-1339
Selective Alzheimer's disease indicator-1 (seladin-1) is a novel gene with antiapoptotic activity that is down-regulated in vulnerable brain regions in Alzheimer's disease. This gene encodes 3-beta-hydroxysterol Delta-24-reductase (DHCR24), which converts desmosterol into cholesterol. In the adrenal cortex, increased expression of seladin-1/DHCR24, which appears to be modulated by ACTH, has been recently reported in cortisol-secreting adenomas, compared with the adjacent atrophic tissue. In our study, we measured the expression level of seladin-1/DHCR24 in cortisol- (n = 18) and aldosterone-secreting (n = 16) adrenocortical adenomas, in carcinomas (n = 17), and in normal adrenal glands (n = 8) by quantitative real-time RT-PCR. The amount of seladin-1/DHCR24 mRNA was significantly reduced in carcinomas (total RNA, 2.5 +/- 0.8 pg/ micro g) compared with the other groups (P < 0.01). Western blot analysis confirmed the mRNA results. Similarly, in adrenal malignancies, significantly reduced levels of expression of the ACTH receptor gene were found. In the adrenal cancer cell line H295R and in primary cultures from adrenocortical cells, ACTH (1 nM) and forskolin (10 micro M) effectively increased seladin-1/DHCR24 expression, confirming that seladin-1/DHCR24 is modulated by the ACTH/cAMP-driven pathway. In summary, this is the first demonstration that seladin-1/DHCR24 expression is reduced in adrenal cancer, suggesting that it might be viewed as a new potential marker of adrenal malignancies. 相似文献
92.
Carolina Ciacci Daniela Gennarelli Gabriella Esposito Raffaella Tortora Francesco Salvatore Lucia Sacchetti 《Clinical gastroenterology and hepatology》2006,4(5):635-638
BACKGROUND & AIMS: Celiac disease (CD) has been associated with several genetic disorders, but has not been associated with hereditary fructose intolerance (HFI). METHODS: We identified CD in 4 female patients affected by HFI from among 38 Italian HFI patients. RESULTS: Three of these patients were children in whom the CD-associated signs were hypertransaminasemia, failure to thrive, low weight, and short stature, whereas the adult patient had protracted diarrhea notwithstanding a fructose-free diet. The incidence of CD in our group of HFI patients was higher (>10%) than in the general population (1%-3%) (P<.02). CONCLUSIONS: The possibility of an association between these 2 gastrointestinal disorders is important, particularly in the management of HFI patients with persisting symptoms. 相似文献
93.
Ascites,pleural, and pericardial effusions in acute pancreatitis 总被引:8,自引:0,他引:8
Dr. Alberto Maringhini MD Maddalena Ciambra MD Rosalia Patti MD Maria Angela Randazzo MD Gabriella Dardanoni MD Luigi Mancuso MD Anna Termini MD Luigi Pagliaro MD 《Digestive diseases and sciences》1996,41(5):848-852
Ascites and pleural and pericardial effusions can be observed during acute pancreatitis. The aims of this study were to evaluate their incidence, natural history, and prognostic role in patients with acute pancreatitis. One hundred patients consecutively admitted with a diagnosis of acute pancreatitis were prospectively submitted to abdominal, pleural, and cardiac ultrasonography at admission and during follow-up. Ascites was found in 18 patients, pleural effusion in 20, and pericardial effusion in 17. Twenty-four patients of this series had severe pancreatitis; three of them died. All effusions disappeared spontaneously in patients who survived pancreatitis up to two months after dismissal. At multivariate analysis ascites and pleural effusion were demonstrated to be accurate independent predictors of severity. The respective odds ratios were 5.9 [95% confidence interval (CI), 1.5–23.0%) and 8.6 (95% CI, 2.3–32.5%). Furthermore the presence of pleural effusion, ascites, and pericardial effusion were associated with an increased incidence of pseudocyst during follow-up. Ascites and pleural and pericardial effusions are frequent during acute pancreatitis. Pleural effusion and ascites are accurate predictors of severity in these patients. 相似文献
94.
Thyroid destruction leading to endemic myxoedematous cretinism is highly prevalent in central Africa, where iodine (I) and selenium (SE) deficiencies as well as thiocyanate (SCN) overload are combined. All three factors have been studied experimentally in the etiology of the disease, but they have never been studied in combination. In a model using rats, we have previously shown that combining I and SE deficiencies increases the sensitivity of the thyroid to necrosis after iodide overload, an event unlikely to occur in the African situation. To develop a model that would more closely fit with the epidemiological findings, we have determined whether an SCN overload would also result in thyroid necrosis as does the I overload. The combination of the three factors increased by 3.5 times the amount of necrotic cells, from 5.5 +/- 0.3% in the I-SE+ thyroids to 18.9 +/- 1.6% in the I-SE-SCN-overloaded ones. Methimazole administration prevented the SCN-induced necrosis. SE- thyroids evolved to fibrosis, whereas SE+ thyroids did not. TGFbeta was prominent in macrophages present in SE- glands. Thyroid destruction in central Africa might therefore originate from the interaction of three factors: I and SE deficiencies by increasing H(2)O(2) accumulation, SE deficiency by decreasing cell defense and promoting fibrosis, and SCN overload by triggering follicular cell necrosis. 相似文献
95.
Long-term remission from life-threatening hypercoagulable state associated with lupus anticoagulant (LA) following rituximab therapy 总被引:3,自引:0,他引:3
Rituximab, a chimeric monoclonal CD20 antibody, is useful in the treatment of B-cell lymphomas and certain autoimmune diseases. We report a successful outcome of rituximab for life threatening hypercoagulable state associated with lupus anticoagulant (LA). A 30-year-old woman initially presented 10 years ago with DVT and positive serology for SLE and LA. While on Coumadin, she suffered from recurrent DVT in the legs and arms, pulmonary emboli, Budd-Chiari syndrome, mesenteric vein thrombosis, bone infarcts, recurrent strokes, and chronic ITP. All measures including plasmapheresis and monthly IV cyclophosphamide were of no benefit. She was recently admitted with spontaneous subdural hematoma with INR of 3.8. Upon discontinuation of anticoagulation for surgical drainage, she developed acute abdomen from thrombosis and recurrent DVT. Because she had failed prior standard measures, 4 weekly infusions of rituximab (375 mg/m2) were given following 2 rounds of plasmapheresis. Subsequently, she made a remarkable recovery over the next month and has been free of thrombosis on Coumadin for over 15 months. LA, IgM antibodies to cardiolipin, and B2GP1 were consistently positive. After rituximab therapy, LA became negative and IgM antibodies to cardiolipin decreased and ITP went into remission. Rituximab induced a lasting remission in a woman suffering from life-threatening hypercoagulable state associated with LA. Her clinical remission was associated with disappearance of LA. 相似文献
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98.
It has been suggested that the adynamic or hypokinetic appearance of the ventricular septum is a unique echocardiographic feature of hypertrophic cardiomyopathy (HC). To determine how characteristic of HC the adynamic septum is, 70 patients with this disease, and 31 with other cardiac diseases that produce left ventricular (LV) hypertrophy and pressure overload (aortic valvular stenosis or systemic hypertension), and 25 subjects with normal hearts were studied by echocardiography. On M-mode echocardiography, 53 of 70 patients (75%) with HC had an abnormally low value for percent systolic thickening of the septum associated with either reduced or normal septal excursion; however, 17 patients (25%) showed normal septal dynamics. Twenty of 31 patients (64%) with other cardiac diseases that produce pressure overload showed normal septal thickening and excursion, while 11 (36%) had reduced systolic thickening associated with either diminished or normal excursion. Greatly reduced values for percent systolic thickening of the septum were present both in patients with HC (13 +/- 1%) and in patients with other cardiac diseases (21 +/- 2%). However, differences in systolic septal thickening between the 2 groups were largely a manifestation of the greater absolute diastolic septal thickness in patients with HC. When values for percent systolic thickening were normalized for diastolic septal thickness, or when systolic thickening was compared in only patients with similar diastolic septal thicknesses, differences in septal thickening between patients with HC and those patients with other cardiac diseases were not significant.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
99.
Piero Barbanti MD PhD Cinzia Aurilia MD Sabina Cevoli MD PhD Gabriella Egeo MD PhD Luisa Fofi MD Roberta Messina MD Antonio Salerno MD Paola Torelli MD Maria Albanese MD PhD Antonio Carnevale MD Francesco Bono MD Domenico D'Amico MD Massimo Filippi MD Claudia Altamura MD PhD Fabrizio Vernieri MD EARLY Study Group 《Headache》2021,61(9):1351-1363