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41.
JR Skinner AG Stuart J O'Sullivan A Heads RJ Boys S Hunter 《Archives of disease in childhood》1993,69(2):216-220
Doppler and direct measurements of right ventricle to right atrial pressure drop were made during cardiac catheterisation on 28 occasions in 26 infants with congenital heart disease. Age was 10 days to 12 months (median 4.5 months), and weight was 3.1 to 9.0 kg (median 4.7 kg). We measured peak velocity of tricuspid regurgitation by continuous wave Doppler, and the pressure drop was calculated using the modified Bernoulli equation (delta p = 4v2). There was a high correlation (r = 0.95) between direct and Doppler measurements. Doppler values tended to underestimate the right ventricle to right atrial pressure drop, but this was not of clinical significance (mean 2 mm Hg). The 95% confidence interval for the Doppler velocity was -0.41 to +0.26 m/sec, and was consistent across the range of pressures studied. Variability between observers was tested, by two observers performing sequential paired examinations on 16 newborn babies with tricuspid regurgitation. The coefficient of repeatability was 6.3 mm Hg (95% confidence interval 4.7 to 9.5 mm Hg) or 0.26 m/sec (0.18 to 0.50 m/sec). This method of right ventricular pressure estimation, validated previously only in older children and adults, is a reproducible and accurate technique in infants with tricuspid regurgitation. 相似文献
42.
In a patient with primary hyperparathyroidism an attempt was made to ablate a middle mediastinal parathyroid gland by forceful staining with radiographic contrast material. The gland was stained on two separate occasions, two weeks apart. Both times the serum calcium level temporarily fell to the normal range but reverted to abnormal levels. The patient ultimately required surgery for correction of hypercalcemia. The mechanism of staining and possible reasons for failure as well as potential complications are discussed. 相似文献
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46.
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
47.
Implementing reproductive and child health services in rural Maharashtra,India: a pragmatic approach
The Government of India has been providing limited maternal and child health services through its Family Welfare programme, but this system is characterised by weaknesses that include inefficient work schedules; non-availability of functioning equipment; poor contraceptive and drug supplies; poor skills and knowledge of health workers; and poor access to services in villages without health centres. For the new Reproductive and Child Health programme to deliver an even wider range of services, the health system will need to be strengthened and the quality of service delivery improved. This paper describes a seven-year operations research project in Parner block, Ahmednagar district, Maharashtra, India, undertaken by the Foundation for Research in Health Systems in partnership with state and district health administrations. It shows the feasibility of establishing a more efficient system, with a minimum of affordable inputs, that increases the use of services by women. Four critical policy changes were implemented: service delivery in each village was changed from household visits to a clinic base, stringent monitoring mechanisms were put in place, in-service training for health workers was instituted and the range of services was gradually increased. This experience is now being applied more widely, with eventual phasing up to full district and state level. 相似文献
48.
Romans DA Barua AB Olson JA 《International journal for vitamin and nutrition research. Internationale Zeitschrift für Vitamin- und Ern?hrungsforschung. Journal international de vitaminologie et de nutrition》2003,73(4):251-257
The purpose of this study was to examine the pharmacokinetics of a single dose (6.3 mumol, 3 mg) of all-trans retinoyl beta-glucuronide (RAG), when given either orally in corn oil or by intraperitoneal (i.p.) injection in dimethylsulfoxide (DMSO) to adult Sprague-Dawley rats. Following dosing, serial blood samples were collected at various times up to 48 hours from each rat via saphenous vein puncture. Retinoids were extracted from plasma samples and analyzed by high-performance liquid chromatography. In the plasma of i.p.-dosed rats (n = 6), a derivative of RAG, tentatively identified as the lactone of RAG (RAGL), was the major product found. RAGL persisted in the plasma for up to 48 hours. Much smaller concentrations of RAG and of retinoic acid (RA) were also present in the plasma at two to four hours, but generally not thereafter. In orally dosed rats (n = 6), neither RAG nor its products, except for occasional traces of the lactone, were detected. Plasma retinol levels decreased in both i.p.-injected and orally treated rats, the decrease being significant in orally dosed rats. 相似文献
49.
Sidell N Pasquali M Malkapuram S Barua AB Wanichkul T Wada RK 《British journal of cancer》2003,89(2):412-419
We have investigated the effects of the low-toxic retinoid, all-trans retinoyl beta-glucuronide (RAG) alone and in combination with the phenylacetate (PA) derivative 4-chloro-phenylacetate (4-CPA) on the human neuroblastoma cell line, LA-N-5. In vitro studies demonstrated that RAG and 4-CPA treatments alone showed differentiation-inducing activity on LA-N-5 cells, with 4-CPA found to be about three-fold more potent than the PA parent compound in inducing morphologic differentiation and growth inhibition. As previously reported for retinoic acid (RA) and PA, RAG and 4-CPA were significantly more effective in their antiproliferative effects on the cells than either agent alone. Pharmacologic studies of 4-CPA in mice demonstrated that blood plasma levels reached peak concentrations 4 h after bolus administration of the compound and showed slow clearance characteristics with an apparent half-life of 4-8 h. As opposed to PA, 4-CPA was found to be essentially odourless and readily consumed in drinking water, giving rise to steady-state blood plasma levels of 4-CPA in the near mM range. Continuous consumption of 4-CPA in this manner for up to 5 months demonstrated no apparent adverse effects on the mice. Long-term RAG- and/or 4-CPA-treatment of nude mice injected with LA-N-5 cells demonstrated that both compounds alone exhibit potent antitumour activity. Together, RAG plus 4-CPA was the most effective treatment for inhibiting established tumour growth. In contrast, 4-CPA alone was equally as effective as the combination for preventing tumour development. The potent in vivo antitumour effects of 4-CPA could not be accounted for by the known ability of PA compounds to induce expression of the RA nuclear receptor beta (RARbeta) suppressor gene. Taken together, these findings demonstrate the possibility that RAG and/or 4-CPA may serve as effective, less-toxic alternatives to 13-cis RA, which is presently being utilised for nb therapy. 相似文献
50.
Fetal gastrointestinal malformations 总被引:1,自引:0,他引:1
Dadhwal V Kochhar S Mittal S Kumar S Agarwal S Arora V Barua A 《Indian journal of pediatrics》2001,68(1):27-30
In an audit to evaluate fetal gastrointestinal (GIT) malformations, case sheets of all mothers who gave birth to newborns
with GIT malformations were analysed regarding the maternal history, prenatal ultrasound and the postnatal structural malformations
and perinatal management. In 1999, eleven babies were born with gastrointestinal malformations, one was a still birth. Nine
had associated malformations of other systems, two had trisomy 21. Eight babies were operated in the immediate newborn period,
5 survived. Ultrasound was not very accurate in the diagnosis of GIT anomaly in this series. In view of associated chromosomal
and structural anomaly a fetal ECHO and genetic amniocentesis is warranted. Most of these babies require immediate surgery
after birth, so they need to be delivered in a centre which is equipped with good neonatal and pediatric surgery care. 相似文献