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Metzinger L; Blake DJ; Squier MV; Anderson LV; Deconinck AE; Nawrotzki R; Hilton-Jones D; Davies KE 《Human molecular genetics》1997,6(7):1185-1191
Mutations in the genes encoding dystrophin or dystrophin-associated
proteins are responsible for Duchenne muscular dystrophy or various forms
of limb-girdle muscular dystrophies respectively. We have recently cloned
the gene for the murine 87 kDa postsynaptic protein dystrobrevin, a
dystrophin-associated protein. Anti-dystrobrevin antibodies stain the
sarcolemma in normal skeletal muscle indicating that dystrobrevin
co-localises with dystrophin and the dystrophin- associated protein
complex. By contrast, dystrobrevin membrane staining is severely reduced in
muscles of Duchenne muscular dystrophy patients, consistent with
dystrobrevin being a dystrophin-associated protein. Interestingly,
dystrobrevin staining at the sarcolemma is dramatically reduced in patients
with limb-girdle muscular dystrophy arising from the loss of one or all of
the sarcoglycan components. Normal dystrobrevin staining is observed in
patients with other forms of limb- girdle muscular dystrophy where
dystrophin and the rest of the dystrophin-associated protein complex are
normally expressed and in other neuromuscular disorders. Our results show
that dystrobrevin- deficiency is a generic feature of dystrophies linked to
dystrophin and the dystrophin-associated proteins. This is the first
indication that a cytoplasmic component of the dystrophin-associated
protein complex may be involved in the pathogenesis of limb-girdle muscular
dystrophy.
相似文献
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MV SINGH SK GANGULI BM AIYANNA MV SINGH SK GANGULI BM AIYANNA 《Medical Journal Armed Forces India》1996,52(4):229-232
A study was conducted of the epidemiological aspects of 500 fresh cases of burns during the period February to August 1989. Women in the reproductive age group from the lower socioeconomic strata were the most frequently victims (52.8%). Four hundred and thirteen (82.5%) patients sustained accidental burns, 62 (12.4%) were suicidal and 25 (5%) homicidal. Majority (72%) of the accidents occurred as a consequence of garments catching fire. Though most of the subjects wore cotton garments, mortality was higher among those wearing synthetic fabric. Low socioeconomic conditions, overcrowding in the house, floor-level cooking, unsafe cooking appliances and the prevalent clothing pattern stand out prominently as risk factors for burn injury.KEY WORDS: Burns, Epidemiology, Risk factors 相似文献
95.
The mutations of the p53 gene previously represented one of several genetic changes involved in the development of bovine leukemia virus (BLV)-induced lymphosarcoma, while the effects of these mutations on the function of p53 are unknown. We identified four mutations of p53 gene in BLV-infected cattle with lymphosarcoma and demonstrated clearly the existence of two functionally distinct groups of mutants: (i) the mutant forms with substitutions at codons 241 and 242, which were mapped within an evolutionally conserved region and corresponded to the human "hot-spot" mutations, had completely lost the capacities for transactivation and growth suppression and gained transdominant repression activity in p53-null SAOS-2 cells; and (ii) the mutations at codons 206 and 207 were located outside the evolutionally conserved regions. These mutants partially retained the capacity for transactivation and growth suppression and failed to inhibit the transactivation activity of coexpressed wild-type p53, instead showing an enhancement of this activity. In addition, protein analysis using an antibody specific for the mutant form revealed that the mutations at codons 206 and 242 induced a "mutant" conformation of the bovine p53 proteins. Collectively, these results show that mutations of p53 gene in BLV-infected cattle with lymphosarcoma can potentially alter its physiological function and may play an important role in BLV-induced leukemogenesis. Copyright 1998 Academic Press. 相似文献
96.
While advances in neuroscience are helping to improve many aspects of human life, inequalities exist in this field between Africa and more scientifically-advanced continents. Many African countries lack the infrastructure and appropriately-trained scientists for neuroscience education and research. Addressing these challenges would require the development of innovative approaches to help improve scientific competence for neuroscience across the continent. In recent years, science-based non-profit organisations (NPOs) have been supporting the African neuroscience community to build state-of-the-art scientific capacity for sustainable education and research. Some of these contributions have included: the establishment of training courses and workshops to introduce African scientists to powerful-yet-cost-effective experimental model systems; research infrastructural support and assistance to establish research institutes. Other contributions have come in the form of the promotion of scientific networking, public engagement and advocacy for improved neuroscience funding. Here, we discuss the contributions of NPOs to the development of neuroscience in Africa. 相似文献
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Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds 总被引:10,自引:2,他引:10
The relationship of clinical bleeding tendency and factor XI antigen (XI:Ag) in factor XI deficiency was studied in 78 members of 25 factor XI-deficient kindreds. Factor XI:Ag was measured in a competitive radioimmunoassay, using monospecific, heterologous anti-factor XI antibody. 125I-labeled factor XI, and staphylococcal protein A as the precipitating agent. Deficiency of factor XI clotting activity (XI:C), less than 0.62 U/mL, occurred in 48 individuals, 22 of whom experienced postoperative or posttraumatic bleeding: Their mean factor XI:C was 0.21 +/- 0.04 U/mL (SEM), and factor XI:Ag was 0.23 +/- 0.04 U/mL. The remaining 26 had no clinical bleeding, many despite surgical challenge: Their mean factor XI:C was 0.30 +/- 0.04 U/mL, and factor XI:Ag was 0.34 +/- 0.05 U/mL. In all, 13 kindreds had between 1 and 11 members with bleeding; the other 12 had none with deficient hemostasis. Two heterozygous factor XI-deficient individuals appeared to be positive for cross-reacting material (CRM+). The slope of the regression line for factor XI:C and factor XI:Ag data points in the 78 individuals tested did not differ from control, and all points fell within 95% confidence limits derived from control. In conclusion, bleeding tendency appears to be consistent within a given kindred and is not determined exclusively by factor XI:C or factor XI:Ag levels. 相似文献