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排序方式: 共有219条查询结果,搜索用时 15 毫秒
1.
Paul Saenger Kenneth M. Attie Joan DiMartino-Nardi Richard N. Fine 《Pediatric nephrology (Berlin, Germany)》1996,10(3):261-263
Carbohydrate metabolism was evaluated by fasting and postprandial glucose, insulin, and hemoglobin (Hb)A1c levels in children with chronic renal insufficiency and various other growth disorders treated with growth hormone. Mean fasting and postprandial glucose remained unchanged throughout the 5-year study period in all four study groups. Median fasting insulin levels rose from lownormal levels into the normal range after 5 years of growth hormone. Average fasting insulin level after 5 years was 10 mU/l. Median postprandial insulin values also rose, yet remained within the normal range at the 5-year mark. Mean Hb A1c levels remained within low to middle end of the normal range in the patients with growth hormone deficiency, Turner syndrome, and idiopathic short stature. Mean Hb A1c levels at the 5 years were slightly elevated to 6.3% for the patients with chronic renal insufficiency. 相似文献
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Doray B; Salomon R; Amiel J; Pelet A; Touraine R; Billaud M; Attie T; Bachy B; Munnich A; Lyonnet S 《Human molecular genetics》1998,7(9):1449-1452
Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by
the absence of submucosal and myenteric plexuses in a variable length of
the gastrointestinal tract. Pedigrees and segregation analyses suggested
the involvement of one or several dominant genes with low penetrance in
HSCR. Considering that RET and glial cell line-derived neurotrophic factor
(GDNF) mutations have been reported in the disease, we regarded the other
RET ligand, neurturin (NTN), as an attractive candidate gene, especially as
it shares large homologies with GDNF. Here, we report on the finding of a
heterozygous missense NTN mutation in a large non-consanguineous family
including four children affected with a severe aganglionosis phenotype
extending up to the small intestine. Interestingly, it appears that the NTN
mutation reported here is not sufficient to cause HSCR, and this multiplex
family also segregates a RET mutation. This cascade of independent and
additive genetic events fits well with the multigenic pattern of
inheritance expected in HSCR, and further support the role of RET ligands
in development of the enteric nervous system.
相似文献
4.
Recombinant human growth hormone in infants and young children with chronic renal insufficiency 总被引:1,自引:0,他引:1
Richard N. Fine Kenneth M. Attie Joyce Kuntze Douglas F. Brown Edward C. Kohaut 《Pediatric nephrology (Berlin, Germany)》1995,9(4):451-457
Children with chronic renal insufficiency (CRI) secondary to congenital structural abnormalities frequently have significant growth retardation by 2 years of age. In a multicenter placebo-controlled study of the use of recombinant human growth hormone (rhGH), 30 of 125 (24%) participants were<2.5 years of age at enrollment. Since the treatment arms of the study were balanced for age at randomization, data for these patients were examined for efficacy and safety. During the first 2 years of the study, approximately two-thirds of the patients (n=19) received rhGH 0.05 mg/kg per day subcutaneously and one-third (n=11) received placebo injections. At entry into the study, the mean (± SD) calculated creatinine clearance was 29.2±14.3 (range 12.0–63.7) ml/min per 1.73 m2 in the rhGH-treated group and 23.3±15.1 (range 8.0–59.4) ml/min per 1.73 m2 in the placebo-treated group. The 1st year growth rate was 14.1±2.6 cm/year for the rhGH-treated group and 9.3±1.5 cm/year in the placebo-treated group (P<0.00005). During the 2nd year of the study, the growth rate was 8.6±1.2 cm/year in the rhGH-treated group compared with 6.9±1.0 in the placebo groupP=0.025). The height standard deviation score was +2.0±0.7 for the rhGH-treated group compared with –0.2±1.1 in the placebo-treated group (P<0.00005) during the 2 years of the study. Minor adverse events occurred with similar frequency in both groups. These data suggest that rhGH is efficacious and safe in children with CRI under age 2.5 years. rhGH therapy may correct significant loss of growth at this age when used in conjunction with optimal medical management. 相似文献
5.
Cyclosporin A prevented the killing of cultured rat hepatocytes by 1-methyl-4-phenylpyridinium (MPP+). However, in the presence of both cyclosporin and atractyloside, there was no protection. Cyclosporin had no effect on the depletion of ATP or the loss of mitochondrial energization by MPP+. Cyclosporin, however, did prevent the increase in the molecular order of hepatocyte membranes produced by MPP+. These data suggest that mitochondrial de-energization produced by MPP+ is accompanied by a "permeability transition" analogous to that which occurs in vitro in the presence of calcium. By preventing this transition, cyclosporin protects the cells. By antagonizing this action of cyclosporin, atractyloside restores the cell killing. The mitochondrial transition is causally linked to cell killing by a mechanism that increases the molecular order of the hepatocyte plasma membrane. 相似文献
6.
Metabolism of native and of lactosylated human low density lipoprotein: evidence for two pathways for catabolism of exogenous proteins in rat hepatocytes. 总被引:4,自引:2,他引:4 下载免费PDF全文
A D Attie R C Pittman D Steinberg 《Proceedings of the National Academy of Sciences of the United States of America》1980,77(10):5923-5927
Human low density lipoprotein (LDL) covalently conjugated with 200-250 residues of lactose per LDL particle (Lac-LDL) was bound and rapidly taken up by the galactose-specific receptor of rat hepatocytes. Uptake of Lac-LDL was associated with inhibition of 3-hydroxy-3-methylglutaryl-CoA reductase and stimulation of cholesterol esterification. Uptake of native human LDL had no significant effects on these enzyme activities even when the rates of LDL uptake equaled those of Lac-LDL. When injected into rats, Lac-LDL was selectively removed by the liver (98% of injected dose). The hepatic subcellular distribution of simultaneously injected native 125I-labeled LDL and 131I-labeled Lac-LDL differed significantly, Lac-LDL was associated with fractions enriched in lysosomal hydrolases whereas native LDL was found predominantly in the supernatant fraction enriched in lactate dehydrogenase. Chloroquine (0.1 mM) markedly suppressed uptake of Lac-LDL by cultured rat hepatocytes (> 80%) but had only a small effect on uptake of native LDL. Leupeptin (0.625 mM) inhibited degradation of Lac-LDL more than it did degradation of native LDL. Colchicine (0.25 microM) dramatically suppressed uptake of Lac-LDL (> 70%) but did not affect native LDL uptake even at concentrations as high as 10 microM. Uptake of human LDL by rat hepatocytes occurs largely by nonspecific mechanisms, including fluid endocytosis, whereas Lac-LDL, as shown here, is taken up by a specific receptor-mediated mechanism. The results show further that native human LDL, representing an example of a protein taken up nonspecifically, is processed intracellularly by a pathway qualitatively distinct from that for Lac-LDL, an example of a protein taken up by a specific mechanism. Lac-LDL may serve as a vehicle for specifically delivering drugs, hormones, or radioactive compounds to hepatocytes for therapeutic or diagnostic purposes. 相似文献
7.
Accuracy of fetal sex determination in the first trimester of pregnancy using 3D virtual reality ultrasound 下载免费PDF全文
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10.
A Buendia F Attie J Ovseyevitz A Zghaib C Zamora D Zavaleta J Vargas-Barron R Richheimer 《Heart (British Cardiac Society)》1983,50(1):31-41
Congenital absence of pulmonary valve leaflets is an uncommon condition usually associated with ventricular septal defect and an obstructive pulmonary valve ring. Twenty-one patients with these malformations are described. Twenty had an associated ventricular septal defect with ventriculoarterial concordance, and one also had transposition of the great arteries, ventricular septal defect, and obstructive pulmonary valve ring. The clinical features, cardiac catheterisation findings, and angiocardiographic results are presented. Twelve patients underwent cardiac surgery. Three patients died, one in the early, and the other two in the late postoperative period. The results, according to the surgical technique employed and postoperative cardiac catheterisation findings, showed that patients in whom the bioprostheses were implanted in the pulmonary position had a better late follow-up. 相似文献