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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany 总被引:6,自引:0,他引:6
Hoffmann GF von Kries R Klose D Lindner M Schulze A Muntau AC Röschinger W Liebl B Mayatepek E Roscher AA 《European journal of pediatrics》2004,163(2):76-80
The lack of epidemiological data on the frequency and/or burden of organic acidurias (OA) and mitochondrial fatty acid transport and oxidation disorders (mtFATOD) is one reason for hesitation to expand newborn screening (NBS) by tandem mass spectrometry (MS-MS). From 1999 to 2000, the frequency of ten potentially treatable OA and mtFATOD was assessed by active nation-wide surveillance on cases presenting with clinical symptoms using the German Paediatric Surveillance Unit (ESPED) system. Case ascertainment was complemented by a second independent source: 3-monthly inquiries in the metabolic laboratories performing secondary selected screening for OA and mtFATOD. Frequency estimates for clinically symptomatic cases older than 7 days in a birth cohort of 844,575 conventionally screened children was compared to the frequency found in a cohort of 382,247 screened by MS-MS in Bavaria and Baden-Württemberg. The overall frequency of the ten conditions considered was 1:8,000 (95% CI 1:11,000–1:6,000) by MS-MS as compared to 1:23,000 (95% CI 1:36,000–1:17,000) in symptomatic cases presenting mainly with metabolic crisis. The contributions of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), other mtFATOD and OA were 29, 4 and 13 among the 46 cases identified by MS-MS, and 19, 1 and 13 among the 33 clinically symptomatic cases, respectively. Acute metabolic crisis, with a lethal outcome in four patients, was reported for 22/33 clinically symptomatic cases. No clinically symptomatic cases were reported from cohorts with screened by MS-MS. Conclusion: ten potentially treatable organic acidurias and mitochondrial fatty acid transport and oxidations disorders were more common than phenylketonuria with organic acidurias accounting for 28% of the cases detected by newborn screening and 39% of the cases identified on high risk screening. These conditions were related to considerable morbidity and mortality. Considerations for their inclusion in expanded newborn screening programmes might be warranted.Abbreviations
ESPED
Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit)
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MCADD
medium-chain acyl-CoA dehydrogenase deficiency
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MS-MS
tandem mass spectrometry
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mtFATOD
mitochondrial fatty acid transport and oxidation disorders
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NBS
newborn screening
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OA
organic acidurias 相似文献
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Granja AC Zacarias E Bergström S 《BJOG : an international journal of obstetrics and gynaecology》2002,109(1):5-8
Objective To review pregnancy-related deaths due to injuries, to identify the characteristics of these women and to compare the magnitude of injury-related maternal deaths to that of other causes of maternal death
Design A retrospective study was performed during a five-year period (1991–1995), covering deaths from injuries, including suicide, homicide and accidents in Maputo, Mozambique
Setting Department of Forensic Medicine at the Maputo Central Hospital, Mozambique
Population The pregnant or recently pregnant (post-abortion and postpartum) population of Maputo city, the national capital of Mozambique. Twenty-seven cases of pregnancy-related deaths caused by injuries were identified
Main outcome measures Proportion of deaths due to homicide, suicide, and accidents in pregnant women or within 42 days after termination of pregnancy
Results Ten cases were due to alleged homicide, nine to alleged suicide and six to alleged accident. Fifty-nine percent (16/27) of women suffering an injury-related maternal death were younger than 25 years of age. Eighty-five percent of pregnancies were less than 28 weeks of gestational age. The magnitude of the problem of violence-related maternal deaths compares with the magnitude of pregnancy-induced hypertension as the fourth cause of maternal death at Maputo Central Hospital
Conclusion The contribution of violence-related deaths to maternal mortality is significant and must not be neglected. 相似文献
Design A retrospective study was performed during a five-year period (1991–1995), covering deaths from injuries, including suicide, homicide and accidents in Maputo, Mozambique
Setting Department of Forensic Medicine at the Maputo Central Hospital, Mozambique
Population The pregnant or recently pregnant (post-abortion and postpartum) population of Maputo city, the national capital of Mozambique. Twenty-seven cases of pregnancy-related deaths caused by injuries were identified
Main outcome measures Proportion of deaths due to homicide, suicide, and accidents in pregnant women or within 42 days after termination of pregnancy
Results Ten cases were due to alleged homicide, nine to alleged suicide and six to alleged accident. Fifty-nine percent (16/27) of women suffering an injury-related maternal death were younger than 25 years of age. Eighty-five percent of pregnancies were less than 28 weeks of gestational age. The magnitude of the problem of violence-related maternal deaths compares with the magnitude of pregnancy-induced hypertension as the fourth cause of maternal death at Maputo Central Hospital
Conclusion The contribution of violence-related deaths to maternal mortality is significant and must not be neglected. 相似文献
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BACKGROUND: Evaluation of outcome after cardiac arrest focuses mainly on survival. Survivors of cardiac arrest end up in different states of health and survival alone may not be a sensitive measure for successful cardiopulmonary resuscitation (CPR). OBJECTIVES: To evaluate health-related quality of life (HR-QOL) of cardiac arrest survivors with EQ-5D, a generic instrument developed by the EuroQol group. PATIENTS AND METHODS: From April 1997 to December 2000, all cardiac arrest adult patients admitted to an eight-bed medical/surgical (ICU) of a tertiary care hospital were enrolled. At 6-months after ICU discharge survivors attended a follow-up interview and answered EQ-5D questionnaire. A match-control group was created choosing for each survivor of cardiac arrest two controls, with similar age range (+/-5 years) and similar Apache II (+/-3 Apache II units), that were randomly selected among other ICU patients. RESULTS: From a total of 1106 patients, 97 (9%) patients were admitted after cardiac arrest. Forty-seven patients (48%) were discharged from ICU. Of these, 11 patients died in the ward. Thirty-six (37%) patients were discharged from hospital. Twelve patients died after hospital discharge but before 6-month evaluation. Five patients were not evaluated, three because they were living in distant locations and two for unknown reasons. Nineteen patients attended the follow-up consultation. Eight of these patients were actively working and six of them had managed to return to their previous activity. Eleven patients were retired and seven of these managed to return to their previous level of activity while four patients presented with anoxic encephalopathy: one with mild and one with moderate neurological dysfunction, two with severe anoxic neurological dysfunction. Although a higher percentage of cardiac arrest survivors reported more extreme problems in some dimensions than other ICU patients, no significant differences were found on HR-QOL, when evaluated by EQ-5D. CONCLUSIONS: When evaluated with EQ-5D at 6-months after ICU discharge, survivors of cardiac arrest exhibit a HR-QOL similar to other ICU survivors. These results agree with previous reports stating that CPR is frequently unsuccessful but if survival is achieved a fairly good quality of life can be expected. 相似文献
46.
Cardoso Guimarães G Rodrigues De Souza R Paiva Gadêlha Guimarães A Filho WD Valeschka De Matos Granja N Karan Kalil R Augusto Soares F Lopes A 《Urology》2003,61(4):837
Metastasis to the penis is an unusual event. Bladder and prostate tumors are the main sources of penile metastasis. Other sites include the rectosigmoid, kidney, and, less frequently, the pancreas, liver, nasopharynx, and lung. Other sources include malignant melanoma and Burkitt's lymphoma. The differential diagnosis includes idiopathic priapism, venereal or infectious disease, tuberculosis, Peyronie's disease, and primary penile tumor. Chondrosarcoma of the jaw is responsible for 10% of all chondrosarcomas that originate with craniofacial bones. Its behavior is usually characterized by local aggression; however, distant metastasis is uncommon. We report a case of chondrosarcoma of the jaw with penile metastasis. This is the first case described in published medical reports. 相似文献
47.
OBJECTIVE: Evaluation of a hospital-wide resuscitation program at one year. METHODS: All records of cardiac arrest calls were collected, logged in a database by the same operator, and analyzed. The cardiac arrest teams consist of a physician and a nurse with ALS (Advanced Life Support) training. Each team has a radio that is activated by a single emergency number. Only cardiac arrest calls were analyzed. RESULTS: Between March 1999 and March 2000 there were 173 emergency team calls. Of these, 120 were cardiac arrest calls (90 in-hospital and 30 from the emergency room--out-of-hospital cardiac arrests). Of the 90 in-hospital cardiac arrests, 61% were male, and median age was 73 years. In 90% of the calls, basic life support (BLS) was started before the arrival of the cardiac arrest team. The immediate cause was cardiac in 39% of the patients. Initial rhythm was ventricular fibrillation in 8%, asystole in 60% and other rhythms in 24% of the patients. Thirty percent presented return of spontaneous circulation (ROSC). There were no differences between those in whom BLS was started before the arrival of the cardiac arrest team and those in whom BLS had not been started. Ten patients (11%) were discharged from hospital. Of the 30 out-of-hospital cardiac arrests, 70% were male, and median age was 69 years. In 97% BLS was started before the arrival of the cardiac arrest team. The immediate cause was cardiac in 30% of patients. Initial rhythm was ventricular fibrillation in 10%, asystole in 73% and other rhythms in 17% of the patients. ROSC was achieved in 27% of the patients. Three patients (10%) were discharged from hospital. There were no differences either in ROSC or in survival to hospital discharge between in-hospital and out-of-hospital cardiac arrests. The state of health previous to cardiac arrest was significantly different between in- and out-of-hospital cardiac arrests: 3% versus 32% healthy, with no functional limitation. The authors conclude that: first, the current records do not enable all the desired goals of the "Utstein style" to be achieved and need to be reviewed; second, 90 to 97% of BLS previous to the arrival of the cardiac arrest team is a good indication of the efficiency of the hospital-wide program, which included training in BLS for all the hospital staff; third, the survival rate, although in accordance with much of the literature, could be improved. 相似文献
48.
A history of pet contact and/or apparent clinical sensitivity was obtained in 65 (55%) of 118 unselected asthmatic children. These 65 children were skin tested and their sera examined for specific IgE using the radioallergosorbent test. Those children who had apparent clinical sensitivities had larger skin test reactions and were more likely to have positive specific IgE results than those without apparent sensitivities. Positive skin tests were very common (80%), but the larger the skin test reaction (weal diameter greater than 4 mm diameter) the more likely was there to be a positive history or a positive specific IgE result. Hence a large skin test reaction can provide a helpful pointer to animal allergy of clinical importance. Commercially available animal extracts have limitations for diagnostic tests. A questionnaire survey of 150 day schools emphasized the potential opportunities for contact with animal allergens at school. 相似文献
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