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21.
A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age. 相似文献
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M. VRŇATA V. MYSLÍK P. MACHÁČ 《Journal of Materials Science: Materials in Electronics》1997,8(2):95-98
This work is concerned with the preparation of deep contacts for layered structures on GaAs and InP substrates. The advantages
of laser technology suggested contact preparation by laser annealing. Results of laser technology optimization are reported
and the procedure for contact preparation is described. Concrete deep contacts were produced on structures with a cap layer
up to 250 nm thick.
This revised version was published online in July 2006 with corrections to the Cover Date. 相似文献
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SK Shapira C McCaskill H Northrup AS Spikes FF Elder VR Sutton JR Korenberg F Greenberg LG Shaffer 《Canadian Metallurgical Quarterly》1997,61(3):642-650
Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to characterize the clinical and molecular aspects of the syndrome. Recent advances in cytogenetic technology, particularly FISH, have greatly improved the ability to identify 1p36 deletions and have allowed a clearer definition of the clinical phenotype and molecular characteristics of this syndrome. We have identified 14 patients with chromosome 1p36 deletions and have assessed the frequency of each phenotypic feature and clinical manifestation in the 13 patients with pure 1p36 deletions. The physical extent and parental origin of each deletion were determined by use of FISH probes on cytogenetic preparations and by analysis of polymorphic DNA markers in the patients and their available parents. Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (92%), growth delay (85%), pointed chin (80%), eye/vision problems (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or short fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior (56%), thickened ear helices (53%), and deep-set eyes (50%). FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap. 相似文献
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The effects of 14 days of spaceflight (SF) or hindlimb suspension (HS) (Cosmos 2044) on myosin heavy chain (MHC) isoform content of the rat soleus muscle and single muscle fibers were determined. On the basis of electrophoretic analyses, there was a de novo synthesis of type IIx MHC but no change in either type I or IIa MHC isoform proportions after either SF or HS compared with controls. The percentage of fibers containing only type I MHC decreased by 26 and 23%, and the percentage of fibers with multiple MHCs increased from 6% in controls to 32% in HS and 34% in SF rats. Type IIx MHC was always found in combination with another MHC or combination of MHCs; i.e., no fibers contained type IIx MHC exclusively. These data suggest that the expression of the normal complement of MHC isoforms in the adult rat soleus muscle is dependent, in part, on normal weight bearing and that the absence of weight bearing induces a shift toward type IIx MHC protein expression in the preexisting type I and IIa fibers of the soleus. 相似文献
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VR Machiraju MH Culig RL Heppner RA Minella JD O''Toole 《Canadian Metallurgical Quarterly》1998,65(3):625-627
BACKGROUND: Minimally invasive direct coronary artery bypass graft procedures are gaining acceptance for revision as well as primary coronary revascularization. When suitable, the left and right internal mammary arteries are preferred as bypass conduits; in other cases, the greater saphenous vein, used for standard coronary artery bypass graft procedures, may be useful to revascularize coronary artery branches during minimally invasive direct coronary artery bypass graft procedures. METHODS: We used the greater saphenous vein on three occasions during minimally invasive direct coronary artery bypass graft procedures (1) to revascularize the left anterior descending coronary artery by anastomosis to the left axillary artery in the infraclavicular region, (2) as an extension to the left internal mammary artery to reach the left anterior descending coronary artery, and (3) as a bridge from the splenic artery to bypass the distal right coronary artery. RESULTS: Postoperatively, all 3 patients had relief from symptoms of coronary artery insufficiency and none has been readmitted to the hospital with symptoms. Angiography or thallium studies were not performed to confirm graft patency because all patients were elderly and the risks of these procedures were considered to outweigh their potential benefit. CONCLUSIONS: The greater saphenous vein is a potential bypass conduit for use in minimally invasive direct coronary artery bypass graft procedures as well as for coronary artery bypass graft procedures. 相似文献
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