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G Demay A C Stubnicer A Boué J Boué M Pechevis G Lenoir 《Journal de génétique humaine》1986,34(3-4):235-243
The request for prenatal diagnosis of cystic fibrosis has been evaluated by an interview during a visit at a cystic fibrosis clinic among 32 couples whose one or several children are affected. Six couples resorted to the procedure between June 1984 and October 1985. In all the cases, in these families the only child (or children) alive was affected. The diagnosis of the disease in the first affected child reduces the number of children planned by the family. The significant use of the test, since its availability points to the existence of a real demand from the parents. 相似文献
74.
J J Candelier P Couillin S Pluvinage M C Vissault A Boué 《Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie》1986,303(1):1-6
The preparation fo five monoclonal antibodies specific of important human renal histologic structures both functionally and organogenetically has permitted to identify the repartition of the corresponding antigens in the vertebrate phylum. For three of them, appeared a clear cut histologic identity in intensity and localization between the mammals studied and man. For the two others a phylogenic and histologic dispersion was observed. It may be supposed, in the latter case, that the evolution and the biotope have acted in different manners on renal function and organogenesis according to the vertebrate classes or species investigated. 相似文献
75.
J. Ch. Deybach B. Grandchamp Mireille Grelier Y. Nordmann J. Boué A. Boué P. de Berranger 《Human genetics》1980,53(2):217-221
Summary Amniotic fluid porphyrins, biosynthesis of porphyrins by amniotic cells, and uroporphyrinogen III cosynthetase were studied after the 17th week of a pregnancy at risk for congenital erythropoietic porphyria (CEP)1. Only coproporphyrin was found in amniotic fluid. A diagnosis of CEP was ruled out by the demonstration of normal cosynthetase activity; biosynthesis of porphyrins was identical, not only in the propositus and in control amniotic cells, but also in patients with CEP and in control skin fibroblasts. 相似文献
76.
P. Couillin M. L. Kottler-Missonnier M. C. Grisard J. Hors J. Feingold J. Boué A. Boué 《Human genetics》1980,53(3):389-392
Summary HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping.The gene frequencies of the 52 index cases were compared with those obtained from the parents' normal haplotypes and with those of a control reference panel.No significant differences were observed, except a clear decrease in the frequency of HLA-B8 among the haplotypes that carry the gene for congenital adrenal hyperplasia. 相似文献
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E. Boużyk I. Buraczewska O. Rosiek B. Sochanowicz I. Szumiel 《Radiation and environmental biophysics》1991,30(2):105-116
Summary L5178Y-R (LY-R) and L5178Y-S (LY-S) cells, differing in radiation sensitivity and susceptibility to the radiosensitizing effect of benzamide (Bz) were examined for susceptibility to hydrogen peroxide. Survival and chromatid aberration frequency indicated that LY-R cells were considerably more sensitive to H2O2 than LY-S cells. So, LY strains were found to be inversely crosssensitive to X/ rays and H2O2. The relative resistance to H2O2 corresponded with the previously found twofold difference in catalase activity (Jaworska et al. 1987). At higher concentrations H2O2 treatment caused interphase death, that was delayed by benzamide (Bz, 2 mM), an inhibitor of po1y(ADP-ribosylation), to a lesser extent in the more resistant cell subline (LY-S). From the examination of the H2O2 induced increase in the free Ca2+ concentration (with or without 2 mM Bz treatment) with the use of Fura-2 it followed, that the cells responded to the oxidative stress by Ca2+ release. The Ca2+ concentration increase was neither directly related to the killing effect of H2O2 treatment, nor did it correspond with the twofold difference in catalase activity in LY strains. 相似文献
80.
Single doses of DL-alpha-amino-beta-(2-pyridine)propanoic acid (2-PA, 100 mg/kg) significantly decreased the holoenzyme and apoenzyme activities of rat liver tryptophan pyrrolase (TP) and increased brain tryptophan, serotonin (5-HT) and 5-hydroxyindole-3-ylacetic acid concentrations. 2-PA had no inhibitory effect on either of the enzyme activities in vitro, but its expected metabolites were effective. Single doses of DL-alpha-amino-beta-(3-pyridine)propanoic acid (3-PA, 100 mg/kg) decreased only the holoenzyme activity and elevated brain tryptophan and its metabolites levels in rats. 3-PA and its metabolite, 3-pyridylpyruvate, inhibited only the holoenzyme activity in vitro. DL-alpha-Amino-beta-(4-pyridine)propanoic acid (4-PA) caused significant changes in liver TP (holo- and apoenzyme forms) activity and brain tryptophan concentration only after repeated administration (100 mg/kg/day). 4-PA was a weak inhibitor of the holoenzyme, but its metabolites apparently inhibited the holo- and apoenzyme activities in vitro. These findings suggest that PA analogs (and/or their metabolites) increased brain tryptophan (and hence 5-HT synthesis) by directly inhibiting liver TP activity. 相似文献