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91.
Gabrielle J. Halpern Dov Inbar Joseph Attias Mordechai Shohat 《American journal of medical genetics. Part A》2001,101(3):195-197
We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition. © 2001 Wiley‐Liss, Inc. 相似文献
92.
Iliac and sacral articular cartilage of 25 human sacroiliac joints (1–93 years) are examined by light microscopy and immunohistochemistry
in order to gain further insight into the nature and progress of degenerative changes appearing during aging. These changes
can already be seen in younger adults as compared to cartilage degeneration known in other diarthrodial joints. Structural
differences between sacral and iliac cartilage can already be observed in the infant: the sacral auricular facet is covered
with a hyaline articular cartilage, reaching 4 mm in thickness in the adult and staining intensely blue with alcian blue at
pH1. Iliac cartilage of the newborn is composed of a dense fibrillar network of thick collagen bundles, crossing each other
at approximately right angles. A faint staining with alcian blue suggests a low content of acidic glycosaminoglycans. In the
adult, iliac cartilage becomes hyaline and its maximal thickness reaches 1–2 mm. Both articular facets exhibit morphological
changes during aging that are more pronounced in the iliac cartilage and resemble osteoarthritic degeneration; the staining
pattern of the extracellular matrix becomes inhomogenous, chondrocytes are arranged in clusters and the articular surface
develops superficial irregularities and fissures. Sometimes fibrous tissue fills up these defects. Nevertheless, large areas
of iliac cartilage remain hyaline in nature. Sacral articular cartilage often remains largely unaltered until old age. The
sacral subchondral bone plate is usually thin and shows spongiosa trabeculae inserted at right angles, suggesting a perpendicular
load on the articular facet. Iliac subchondral spongiosa shows no definite alignment and joins the thickened subchondral bone
plate in an oblique direction. The iliac cartilage therefore seems to be stressed predominantly by shearing forces, arising
from the changing monopodal support of the pelvis during locomotion. The subchondral bone plate on both the iliac and sacral
auricular facet is penetrated by blood vessels that come into close contact with the overlying articular cartilage. These
vessels may contribute to the high incidence of rheumatoid and inflammatory diseases in the human sacroiliac joint. Immunolabelling
with an antibody against type II collagen reveals a diminished immunoreactivity in the upper half of adult sacral cartilage
and only a faint and irregular labelling in the iliac cartilage. Type I collagen can be detected in a superficial layer on
the sacral articular surface and around chondrocyte clusters in iliac cartilage, as in dedifferentiating chondrocytes during
the development of osteoarthritis.
Accepted: 22 April 1998 相似文献
93.
Interleukin-1-stimulated cartilage degradation in bovine articular cartilage explants is effectively inhibited by several different dithiocarbamates with IC50's in the micromolar range.accepted by W. B. van den BergSupported by OsteoArthritis Sciences, Inc. 相似文献
94.
M. F. Humphrey S. A. Dunlop A. Shimada L. D. Beazley 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1992,90(3):630-634
Summary In this study, we crushed one optic nerve in the frog Litoria (Hyla) moorei and at intervals thereafter anterogradely labelled optic axons with horseradish peroxidase (HRP). For one series, HRP was applied between the eye and the crush site and in a second series between the crush site and the chiasm. A tectal projection of regenerating axons was seen in both series but, in addition, up to 12 weeks post-crush, the second series displayed an additional projection. Its appearance matched that of the disconnected, but persisting, optic axon terminals which are found after enucleation or optic nerve ligation. We conclude that, in the frog, many disconnected optic axons persist throughout the period of optic nerve regeneration and of restoration of an orderly retino-tectal map.Abbreviation HRP
horseradish peroxidase 相似文献
95.
扬子鳄胚胎中肾发生及退化 总被引:2,自引:1,他引:2
目的:在11个不同发育时期扬子鳄胚胎中观察中肾的发生及退化过程。方法:采用电镜、细胞化学及免疫组织化学方法。结果:孵育第6期在中肾管前端附近出现一些中肾小泡。第8期形成“S”形中肾小管。第13—17期鳄胚体前部部分中肾小管盲端内陷,形成原始的肾小囊和肾血管球,中肾小管显著伸长并迂回曲折。第20一22期,体前后部中肾组织均已形成完整的肾单位。中肾小管颈段由纤毛柱状上皮细胞组成,近球小管上皮细胞含丰富的PAS阳性物质并呈表皮生长因子(EGF)、转化生长因子(TGFβ1)和生长抑素(SS)免疫阳性反应。第24—28期,体前部至后部的中肾组织依次退化。结论:(1)扬子鳄中肾除重吸收作用外还具有内分泌功能;(2)中肾退化时,细胞凋亡依次表现为核固缩,出现大量凋亡小体,线粒体数目剧增并膨胀,线粒体等细胞器自溶及核消失;(3)中肾退化可能与小管细胞中TGFβ1及SS大量表达有关。 相似文献
96.
The neurodegeneration in the CA1 subfield of hippocampus exhibited a dorsal-ventral gradient of susceptibility in global ischemia (82% dorsoseptally and only 16% ventrotemporally). Scopolamine (SCOP) did not improve the neuronal damage caused by the global ischemic challenge in rats and did not reduce the infarct area after the focal MCA-occlusion in mice. No differences were observed between saline and SCOP-treated animals in the physiologic parameters, except for a slight increase in rectal temperature. In contrast, treatment of hippocampal cultures with increasing concentrations of SCOP (1 nM to 1 mM) under glutamate incubation had a beneficial effect on neuronal viability. These data show that (1) there is substantial gradient of vulnerability of the hippocampus from dorsal to ventral in global ischemia and (2) that interactions between the NMDA, muscarinic receptors and their corresponding neurotransmitter inputs to hippocampal neurons are evident in vitro and may play a crucial role in neuronal neurodegeneration. However, the mechanisms underlying the high vulnerability of dorsal hippocampus still remain enigmatic. 相似文献
97.
Gregory M. Acland Susan H. Blanton Bennett Hershfield Gustavo D. Aguirre 《American journal of medical genetics. Part A》1994,52(1):27-33
Breeding studies are reported of a previously undescribed hereditary retinal degeneration identified in the Siberian Husky breed of dog. This disorder clinically resembles the previously reported autosomal recessive canine hereditary retinal degenerations collectively termed progressive retinal atrophy (PRA). However, the pedigree of the propositus, a male Siberian Husky, exhibited an X-linked pattern of transmission. This dog was outcrossed to three phenotypically normal female laboratory Beagles and two of their F1 daughters were bred to a phenotypically normal male Beagle, producing affected males in the F2 generation. Subsequent inbreedings produced further affected males and affected females as well. X-linked transmission was established by exclusion of alternative modes of inheritance and, consequently, the disease has been termed X-linked progressive retinal atrophy (XLPRA). This is the first reported X-linked retinal degeneration in an animal. Because of the many similarities of PRA in dogs to retinitis pigmentosa (RP) in humans, this new disease may not only represent the first animal model of X-linked RP (XLRP) but may well be a true homolog of one of the XLRP loci (RP2, RP3, RP6). It is the first retinal degeneration in dogs that can be assigned to an identified canine chromosome, and the first for which linkage mapping offers a realistic approach to proceed by positional cloning towards identifying the responsible gene locus. © 1994 Wiley-Liss, Inc. 相似文献
98.
姚作宾 《中国临床解剖学杂志》1988,(3)
通过动脉灌注,对56侧儿童和成人尸体的半月板血供进行了研究。成人半月板外1/5为血管区,内4/5为无血管区。半月板的撕裂常发生于无血管区或无血管区与血管区的连接处。半月板的退化和磨损位于无血管区。 相似文献
99.
C. Bosman E. Bonucci P. Gugliantini L. Saguí 《Virchows Archiv : an international journal of pathology》1977,373(1):23-35
Summary An ultrastructural study of chondrodystrophia calcificans congenita is reported. Foci of initial calcification of cartilage are characterized by coexistence of three different types of crystals, probably due to abnormal proteoglycan composition of cartilage matrix. The calcification process in chondrodystrophia calcificans congenita is apparently not related to matrix vesicles as it is in normal cartilage. 相似文献
100.
Motomaro Nakajima Hiroyuki Narnbu Nobuaki Shikata Hideto Senzaki Hirohiko Miki Airo Tsubura 《Pathology international》1996,46(11):874-882
Pigmentary degeneration of the retina was induced by a single intraperitoneal Injection of 75mgkg of N-methyl-N-nitrosourea (MNU) In female Brown-Norway colored rats at 50 days of age, which were then observed at 24, 48 and 72 h and 7, 21,35 and 150 days after the treatment. MNU-treated rats showed selective destruction of the photoreceptor cells by an apoptotic mechanlsm 24 h after the treatment, and the destruction was completed by day 7. During the photoreceptor cell degeneration, proliferation of Miller cells and infiltratlon of macrophages was prominent 72h and 21 days aRttr the treatment, respectively. Müller cell proliferation and macrophage infiltratbn corresponded to degenerative photo-receptor cell phagocytosis, and prollferating Müller cell processes responded to stabilize the damaged retina. Pigment epithelial cell detachment from the Bruch's membrane was seen 72 h after the treatment, and migration within all layers of the retina was seen at day 7 when photoreceptor Cells were lost. At 21, 35 and 150 days after the treatment, lack of photoreceptor cells and deposition of pigment epithelial cells within the retina but not in contact to vascular endothe-lial cells were characteristic. MNU-induced photoreceptor apoptosis followed by Miiller cell and macrophage reaction then pigment epithellal cells deposition withln the retina partially resembles retinitis pigmentosa in humans. 相似文献