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81.
Chrétien F Servan J Elghozi D Fontaine B Brion F Ereau T Chesneau AM Hénin D Gray F Duclos H 《Revue neurologique》2001,157(2):178-186
This paper reports the clinico-pathological data in a French family with orthochromatic leukodystrophy. The parents were first cousins and had seven children. Among those, two sisters and one brother presented with neurological signs, with onset around the 5(th) decade, including a dementing syndrome of frontal type, a tetrapyramidal syndrome, seizures, and, in one sibling, a cerebellar syndrome. CT scan or MRI showed diffuse involvement of the white matter. The neurological signs worsened progressively leading to death within 11 and 22 months. Neuropathological examination was performed in two cases. It revealed characteristic orthochromatic leukodystrophy. In one case, the presence of pigmented macrophages and astrocytes was suggestive of Van Bogaert and Nyssen disease. However there were some atypical features including the absence of pigmented cells in the second case whose clinical course was shorter, and the cavitary appearance of the white matter changes with a relative increase in the number of oligodendrocytes raising the issue of a possible link between this condition and cavitary orthochromatic leukodystrophies. 相似文献
82.
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency 总被引:2,自引:0,他引:2
Faivre L Cormier-Daire V Chrétien D Christoph von Kleist-Retzow J Amiel J Dommergues M Saudubray JM Dumez Y Rötig A Rustin P Munnich A 《Prenatal diagnosis》2000,20(9):732-737
Genetic counselling and prenatal diagnosis are major issues of mitochondrial respiratory chain deficiency, especially as these conditions are largely untreatable. In the absence of known mitochondrial or nuclear gene mutations, measurement of respiratory chain enzyme activities represents the only possibility to prevent recurrence of the disease in affected families. We carried out enzymatic prenatal diagnosis in 21 pregnancies from 10 unrelated couples using uncultured choriocytes and/or amniocytes. Twelve babies were born and are healthy, seven pregnancies were discontinued early on because of an enzyme deficiency detected prenatally. In two cases, a fetus which appeared normal after early and/or late prenatal diagnosis, turned out to be affected. We conclude that a deficient enzyme activity is indicative of recurrence, but a normal result at 10 weeks of gestation does not give conclusive evidence as to the outcome of the pregnancy. We therefore suggest the following procedure: (1) a choriocentesis or an amniocentesis in early pregnancy when the proband expresses the disease in cultured skin fibroblasts; (2) a second amniocentesis at 28 weeks' gestation should be offered to avoid false negative results due to a possible late expression of the disease, in combination with: (3) a careful and repeated ultrasound survey for detection of growth failure in the third trimester; (4) prenatal diagnosis should not be performed in case of late onset clinical symptoms in the proband; and (5) parents should be aware of the possibility of false negative results. Prenatal diagnosis should not be proposed for a complex I deficiency as this enzyme activity cannot be accurately measured in fetal cells. 相似文献
83.
Bennaceur S Bayonne E Munier N Buisson T Teillac-Hamel D Chrétien-Marquet B 《Revue de stomatologie et de chirurgie maxillo-faciale》2000,101(1):17-22
Infants with cutaneous hemangiomas are classically managed medically, well-defined surgery being planned for esthetic correction at the age of 8 to 10 years. We present a series of 65 cases of early surgery in children with head and neck cutaneous or mucosal hemangiomas where irreversible and unesthetic scars were predictable. The surgical procedure was simple and the cosmetic result was better than could be expected after late surgery, limiting psychological consequences. In our opinion, the abstention rule should be changed. A multidisciplinary check-up at 2 years to identify cases with a predictably unesthetic scar after complete resolution of the angioma would help select cases where early surgical correction, taking advantage of the exceptional quality of skin in these young children, would be most beneficial. 相似文献
84.
Chr.Hjort Sørensen Sven Holm-Jensen Mirko Tos 《International journal of pediatric otorhinolaryngology》1981,3(2):119-128
Tympanometry and otologic examinations were performed in 373 four-year-old children randomly selected from the Central National Register at the end of February, 1979. A close interaural correlation of the middle ear pressures of a child was found and therefore the tympanometric results represent related as well as independent data. Consequently, the post-winter prevalence rates of type B tympanograms were calculated according to different sampling units: per all ears 13.7%; per right ears 12.9%; per left ears 14.5%; per ears selected at random 13.9%. Additionally, the prevalence rate was estimated per child at 20.4% type B in at least one ear and at 7% type B in both ears. Based upon the literature the validity of the tympanometric method in detecting middle ear effusion is described. The predictive values of positive and negative tests mostly depend on the degree of the cutoff point (pass—fail point) which has been chosen. In this study the cutoff point was the presence of a type B tympanogram. The advantage and disadvantage of applying ‘one ear’ or ‘one child’ as the sampling unit is discussed from a statistical as well as a clinical point of view. When calculating either per ear or per child no sex differences in the prevalence rates could be proved. 相似文献
85.
Ohne Zusammenfassung 相似文献
86.
Chr. Gloxhuber 《Naunyn-Schmiedeberg's archives of pharmacology》1963,246(1):88-89
Ohne Zusammenfassung 相似文献
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