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1.
S. Liechti-Gallati M. Koenig L. M. Kunkel D. Frey E. Boltshauser V. Schneider S. Braga H. Moser 《Human genetics》1989,82(4):343-348
Summary DNA from 80 Duchenne (DMD) and 15 Becker (BMD) index patients was analyzed with 12 genomic probes and the total cDNA. Deletions
were detected in 24 DMD (30%) and 10 BMD patients (67%) by genomic probes alone, mostly p20, pXJ, and/or pERT87. All deletions
were confirmed by cDNA probes, and an additional 29 DMD deletions were detected, resulting in a total of 63/95 deletions (66%).
The majority of the deletions are localized between kb 6.7 and 9.7 of the cDNA; a smaller group, between kb 0.5 and 3.5. Of
the deletions, 90% are detected by the three cDNA probes 1–2a, 7, and 8. This can be applied to strategies for carrier detection
and prenatal diagnosis. The order of 13 exon-containing HindIII fragments in the region between probes 7 and 9–10, where most of the deletions are found, could be defined. The deletion
patterns in DMD and BMD patients are different and well in accordance with the “reading frame theory” of Monaco and coworkers.
Thus our findings indicate that a DMD or BMD phenotype may be predicted according to the breakpoint position and the number
of deleted exons. 相似文献
2.
A. Ripamonti N. Roveri D. Braga D. J. S. Hulmes A. Miller P. A. Timmins 《Biopolymers》1980,19(5):965-975
The roles of pH and ionic strength on the structure and stability of collagen fibrils have been investigated by means of x-ray and neutron diffraction techniques. High-angle x-ray diffraction shows that a salt concentration of 0.5M KCl is sufficient to reduce the osmotic swelling and related disordering in the pH range 1–3. The relative intensities of the low-angle meridional x-ray and neutron diffraction Bragg reflections vary with pH. Difference Fourier syntheses between pH 7 and 1.6 data indicate, for both x-ray and neutron diffraction, a reduced scattering contribution from the telopeptides at low pH. Lyotropic relaxation is a crucial step in the appearance at low pH of a doubling of the 668-Å axial periodicity (D) of collagen fibrils. These results suggest that electrostatic interactions are essential for the structural stability of the telopeptide regions and of the 1D and 3D intermolecular staggers between collagen molecules. 相似文献
3.
João Marcelo Alvarenga Braga 《Kew Bulletin》2008,63(2):309-314
Summary
Calathea dryadica and Calathea reginae are described, circumscribed and illustrated. These new species are probably endemic to the Atlantic Forest of Rio de Janeiro
State in Southeast Brazil and are considered critically endangered because of the restricted geographic area of occurrence,
sometimes enclosed by densely urbanised areas. 相似文献
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A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency 总被引:11,自引:0,他引:11 下载免费PDF全文
De Praeter CM Gerwig GJ Bause E Nuytinck LK Vliegenthart JF Breuer W Kamerling JP Espeel MF Martin JJ De Paepe AM Chan NW Dacremont GA Van Coster RN 《American journal of human genetics》2000,66(6):1744-1756
Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal alpha-1,2-linked glucose from the Glc3Man9GlcNAc2 precursor after its en bloc transfer from dolichyl diphosphate to a nascent polypeptide chain in the endoplasmic reticulum. We have identified a glucosidase I defect in a neonate with severe generalized hypotonia and dysmorphic features. The clinical course was progressive and was characterized by the occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome at age 74 d. The accumulation of the tetrasaccharide Glc(alpha1-2)Glc(alpha1-3)Glc(alpha1-3)Man in the patient's urine indicated a glycosylation disorder. Enzymological studies on liver tissue and cultured skin fibroblasts revealed a severe glucosidase I deficiency. The residual activity was <3% of that of controls. Glucosidase I activities in cultured skin fibroblasts from both parents were found to be 50% of those of controls. Tissues from the patient subjected to SDS-PAGE followed by immunoblotting revealed strongly decreased amounts of glucosidase I protein in the homogenate of the liver, and a less-severe decrease in cultured skin fibroblasts. Molecular studies showed that the patient was a compound heterozygote for two missense mutations in the glucosidase I gene: (1) one allele harbored a G-->C transition at nucleotide (nt) 1587, resulting in the substitution of Arg at position 486 by Thr (R486T), and (2) on the other allele a T-->C transition at nt 2085 resulted in the substitution of Phe at position 652 by Leu (F652L). The mother was heterozygous for the G-->C transition, whereas the father was heterozygous for the T-->C transition. These base changes were not seen in 100 control DNA samples. A causal relationship between the alpha-glucosidase I deficiency and the disease is postulated. 相似文献
8.
G U Braga S D Flint C D Miller A J Anderson D W Roberts 《Journal of invertebrate pathology》2001,78(2):98-108
The effects of irradiances of 920 and 1200 mW m(-2) (biologically effective weighted irradiance) were examined in 2 Metarhizium album strains, 26 M. anisopliae strains, 1 M. flavoviride strain, and 1 M. taii strain isolated from sites located at latitudes from 61 degrees N to 54 degrees S. Conidia were exposed to UV-B from 1 to 6 h and subsequently examined for relative percentage culturability. Total dosage received at the end of the exposure periods ranged from 3.3 to 19.9 kJ m(-2) for the lower irradiance and from 4.3 to 25.9 kJ m(-2) for the higher irradiance. Both the irradiance values and the doses are environmentally realistic and can be observed even in temperate regions. The relationships between latitude of origin and UV-B tolerance were compared for the two levels of irradiance for the data from 1 and 2 h exposure. Exposure to both irradiances drastically reduced the relative percentage culturability of all strains. Tolerance to UV-B varied widely among strains and high variation was observed for both irradiances after all periods of exposure. After 1 h of exposure, a difference between the two irradiance levels was detectable, and this difference was magnified at longer irradiations. A significant quadratic relationship of decreasing UV-B tolerance with increasing latitude was observed after exposure of 1 and 2 h. The shape of the relationship did not differ for the two levels of irradiance. Also, we studied the effect of 1200 mW m(-2) irradiance on conidial germination time in 1 M. album strain, 7 M. anisopliae strains, and 1 M. taii strain. Exposure to UV-B delayed the germination of surviving conidia of all strains. In general, the delay in germination was directly proportional to the dose. 相似文献
9.
Neurite growth acceleration of adult Dorsal Root Ganglion neurons illuminated by low‐level Light Emitting Diode light at 645 nm 下载免费PDF全文
Marion Burland Lambert Paris Patrice Quintana Jean‐Michel Bec Lucie Diouloufet Chamroeun Sar Hassan Boukhaddaoui Benoit Charlot Jefferson Braga Silva Michel Chammas Victor Sieso Jean Valmier Fabrice Bardin 《Journal of biophotonics》2015,8(6):480-488
The effect of a 645 nm Light Emitting Diode (LED) light irradiation on the neurite growth velocity of adult Dorsal Root Ganglion (DRG) neurons with peripheral axon injury 4–10 days before plating and without previous injury was investigated. The real amount of light reaching the neurons was calculated by taking into account the optical characteristics of the light source and of media in the light path. The knowledge of these parameters is essential to be able to compare results of the literature and a way to reduce inconsistencies. We found that 4 min irradiation of a mean irradiance of 11.3 mW/cm2 (corresponding to an actual irradiance reaching the neurons of 83 mW/cm2) induced a 1.6‐fold neurite growth acceleration on non‐injured neurons and on axotomized neurons. Although the axotomized neurons were naturally already in a rapid regeneration process, an enhancement was found to occur while irradiating with the LED light, which may be promising for therapy applications.
10.
Lucho Simone Ribeiro do Amaral Marcelo Nogueira Milech Cristini Bianchi Valmor João Almagro Lorena Ferrer María Ángeles Calderón Antonio Asensio Braga Eugenia Jacira Bolacel 《Plant Cell, Tissue and Organ Culture》2021,146(1):171-184
Plant Cell, Tissue and Organ Culture (PCTOC) - Steviol glycosides (SGs) and gibberellins (GAs) share the same molecular basis. However, the coordination of their respective biosynthetic pathways is... 相似文献