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排序方式: 共有233条查询结果,搜索用时 15 毫秒
1.
Kellermayer R Czakó M Kiss-László Z Gyuris P Kozári A Melegh B Kosztolányi G 《American journal of medical genetics. Part A》2005,132(4):431-433
An unbalanced Y;autosome translocation leading to a male with a 45,X karyotype is rare with about 30 published cases. A male with a 45,X karyotype as a result of a unique, submicroscopic, unbalanced Y;16 translocation is presented with alpha-thalassemia/mental retardation syndrome. 相似文献
2.
Zrubka Zsombor Vékás Péter Németh Péter Dobos Ágota Hajdu Ottó Kovács Levente Gulácsi László Hibbard Judith Péntek Márta 《The European journal of health economics》2022,23(8):1341-1355
The European Journal of Health Economics - Patient activation comprises the skills, knowledge and motivation necessary for patients’ effective contribution to their care. We adapted and... 相似文献
3.
János Jósvay András Klauber Béla Both Péter B. Kelemen Zsombor Z. Varga Pál Cs. Pesthy 《The journal of spinal cord medicine》2015,38(4):432-438
Context
Pelvic region pressure sores often develop following spinal cord injury. Surgery is often necessary for long standing, large-sized pressure sores not responding to conservative treatment. Authors analyze their results of a 10-year period, and identify factors contributing to the reduction of the recurrence rate.Methods
A total of 119 pressure sores were operated on 98 patients in two institutions during a 10-year period (1 January 2003 to 31 December 2012). The encountered perioperative complications are summarized, and the recurrence rate is analyzed with a patient follow-up questionnaire.Results
We experienced 15 perioperative complications (12.6%). All complications were fully resolved by conservative treatment. Fifty-eight returned patient replies were processed. The average follow-up time after surgery was 5.2 years. The recurrence rate was 5.47%.Conclusion
The strict adherence to surgical indications, full patient compliance, specialized pre- and post-operative patient care, our routinely used preferred surgical method, all contribute to a low post-operative complication rate, long-term flap survival, and an extended recurrence free period. 相似文献4.
Lopman B Vennema H Kohli E Pothier P Sanchez A Negredo A Buesa J Schreier E Reacher M Brown D Gray J Iturriza M Gallimore C Bottiger B Hedlund KO Torvén M von Bonsdorff CH Maunula L Poljsak-Prijatelj M Zimsek J Reuter G Szücs G Melegh B Svennson L van Duijnhoven Y Koopmans M 《Lancet》2004,363(9410):682-688
5.
6.
Bla Melegh Ildik Bock Istvn Gti Krolu Mhes 《American journal of medical genetics. Part A》1996,65(1):82-88
In a newborn boy with characteristics of Brachmann-de Lange syndrome (BDLS) high temperatures were observed on the second day after birth and recurred 2-6 times daily during the 7 months of the patient's life. After transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the 51st day of life, serious and progressive distortion of mitochondria was observed. In several mitochondria the cristae structure was broken, other mitochondria were shrunken and the damage progressed towards further deterioration in other organelles. At several points between the myofibrils amorphous material was seen possible debris of destroyed mitochondria. Most myofibrils seemed to be intact; however, in some areas myolytic signs were present. Analysis of the mitochondrial DNA (mtDNA) showed multiple deletions in skeletal and heart muscles, liver, lung and kidney. Since the mtDNA encodes several proteins of the respiratory complexes, the deleted mtDNA certainly affected the integrity of the mitochondrial oxidative phosphorylation process by synthesis of abnormal proteins. In the present case the hyperthermia may have been a result of the mtDNA damage. © 1996 Wiley-Liss, Inc. 相似文献
7.
Havasi V Szolnoki Z Talián G Bene J Komlósi K Maász A Somogyvári F Kondacs A Szabó M Fodor L Bodor A Melegh B 《Journal of molecular neuroscience : MN》2006,29(2):177-183
The possible pathogenic role of triglycerides (TG) in the development of ischemic stroke is still under extensive investigation.
Recently, apolipoprotein (apo)A5 gene promoter region T-1131C polymorphism has been shown to associate with elevated serum
TG levels. In the current work, a total of 302 subjects were classified as being large vessel-associated, small vessel-associated,
or belonging to a mixed group of ischemic stroke-affected patients. The level of TG was increased in all groups (p<0.01). The apoA5-1131C allele frequency was approximately twofold in all groups of stroke patients compared with the controls
(5 vs 10–12%; p<0.05); and the apoA5-1131C allele itself was also found to associate with increased TG levels in all groups. In a multivariate
logistic regression analysis model adjusted for differences in age, gender, serum cholesterol, hypertension, pressence of
diabetes mellitus, smoking and drinking habits, and ischemic heart disease, a significantly increased risk of developing stroke
disease was found in patients carrying the apoA5-1131C allele (p<0.05; odds ratio OR=2.1 [1.3–4.7]); this association was also proven for all subtypes of the stroke. The results presented
here suggest that the apoA5-1131C allele is an independent risk factor for the development of stroke. Being that apoA5 gene
is under the control of the peroxisome proliferator-activated receptor α, theoretically, the current observations also can
have long-term therapeutic consequences. 相似文献
8.
9.
Patricia Sarlos Dalma Varszegi Veronika Csongei Lili Magyari Luca Jaromi Lajos Nagy Bela Melegh 《World journal of gastroenterology : WJG》2014,20(1):219-227
AIM:To study the inflammatory bowel disease-5 locus(IBD5)and interleukin-23 receptor(IL23R)gene variants in UC patients and test for gene-gene interaction.METHODS:The study population(n=625)was comprised of 320 unrelated ulcerative colitis(UC)patients with Caucasian origin and 316 age-and gendermatched,healthy controls.Five variants in the IBD5 locus(IGR2198a1 rs11739135,IGR2096a1 rs12521868,IGR2230a1 rs17622208,SLC22A4 rs1050152 and SLC22A5 rs2631367)and two of the IL23R gene(rs1004819,rs2201841)were analysed.PCR and restriction fragment length polymorphism methods were used for genotyping,the SLC22A4 rs1050152 genotypes were determined by direct sequencing.Interactions and specific genotype combinations of the seven variants were tested by binary logistic regression analysis.The IL23R genotypes were stratified by IBD5 genotypes for further interaction analyses.RESULTS:For the IL23R rs1004819 A allele we found significantly higher allele frequency(P=0.032)in UC patients compared to control subjects.The SNP rs1004819 showed significant association with UC risk for carriers(P=0.004,OR=1.606;95%CI:1.160-2.223)and the SNP rs2201841 for homozygotes(P=0.030,OR=1.983;95%CI:1.069-3.678).Individually none of the IBD5 markers conferred risk to UC development.There was no evidence for statistical interaction either between IBD5 loci and IL23R genes using logistic regression analysis.After genotype stratification,we could detect a positive association on the background of rs1004819 A allele for SLC22A4 T,SLC22A5 C,IGR2198a1 C or IGR2096a1 T allele,the highest OR was calculated in the presence of SLC22A4T allele(P=0.005,OR=2.015;95%CI:1.230-3.300).There was no association with UC for any combinations of rs1004819 and IGR2230a1.The IL23R rs2201841homozygous genotype and IBD5 carrier status together did not confer susceptibility for UC.CONCLUSION:The present study has shown that UC susceptibility genes are likely to act in a complex interactive manner similar to CD. 相似文献
10.
Effect of chronic valproic acid treatment on plasma and urine carnitine levels in children: decreased urinary excretion 总被引:1,自引:0,他引:1
B Melegh J Kerner G Kispál G Acsádi M Dani 《Acta paediatrica Academiae Scientiarum Hungaricae》1987,28(2):137-142
Plasma levels and urinary carnitine excretion rates were determined in children treated with valproic acid (n = 11) and in age and sex matched controls (n = 11). Urine was collected throughout two consecutive 24 h periods in both groups, and blood samples were taken on the first day of collection after an overnight fast. The plasma level of total and free carnitine was significantly lower in the treated group (24.3 +/- 2.2 vs 34.9 +/- 2.4 and 16.8 +/- 1.8 vs 26.5 +/- 2.1 nanomol/ml; values are means +/- SEM), while there was no significant alteration in the acylcarnitine fraction. In the treated group of children a significant reduction was found in the plasma beta-hydroxybutyrate level indicating a limited fatty acid utilization (23.2 +/- 2.5 vs 81.9 +/- 7.8 nanomol/ml). Urinary total and free carnitine decreased from 286.4 +/- 57.8 to 120.8 +/- 18.2 and from 154.3 +/- 33.6 to 21.2 +/- 5.8 mumol/day, respectively; the acyled fraction was not significantly reduced. In one child, urinary carnitine excretion was followed during the first ten days of treatment. After the 2nd day a decrease of the total and free fraction was observed, confirming previous data obtained during chronic VPA treatment. It has been concluded that the decreased plasma carnitine associated with chronic VPA treatment is not a result of an increased excretion rate, but more likely the consequence of a relatively insufficient endogenous carnitine synthesis. The decreased plasma BOB level probably due to limited fatty acid utilization might also be a metabolic consequence of depressed carnitine concentration. 相似文献