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51.
52.
目的:探讨肝豆状核变性(Hepatolenticular Degeneration,HLD)患者ATP7B基因Arg778Leu突变型与临床表现之间的相关性。方法:采用PCR和DNA测序技术检测91例HLD患者ATPTB基因8号外显子Arg778Leu突变,将91例患者分为纯合突变组、杂合突变组和无突变组,并与临床表现(性别、起病年龄、临床表型)进行相关分析。结果:在91例HLD患者中检出26例Arg778Leu纯合子和40例杂合子,其余25例无此突变。患者性别、起病年龄、临床表型与该突变型均无相关性。结论:Arg778Leu突变与患者性别、起病年龄及临床表型无关。 相似文献
53.
K. M. Saari M.D. 《International ophthalmology》1986,9(1):45-60
To study the inheritance and clinical picture of a new form of vitreoretinal dystrophy I examined 18 family members of a family with six generations. Seven patients, three male and four female, in three consecutive generations were observed to be affected indicating autosomal dominant inheritance. The disease was characterized by juvenile degeneration of the vitreous with detachment of the vitreous body and some floating vitreous opacities, cystoid degeneration of the peripheral retina with whitish glistening stippled areas of superficial retinal degeneration, spotty hyperpigmentation, patches of retinal atrophy with pigmentations, occasional atrophic retinal holes, and in four family members at the age of 4 to 12 years, unilateral or bilateral retinal detachment with breaks in the peripheral retina. Most patients had hyperopia with or without astigmatism. In eyes without detached retina, the disease did not show any marked progression, the lens was clear, the posterior fundus and the retinal and choroidal vessels were normal, and the visual acuity, visual fields, dark adaptation, colour vision, electroretinograms, and visually evoked response findings were normal. 相似文献
54.
Fredrik Ghosh Karl Engelsberg Robert V. English Robert M. Petters 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2007,245(6):835-846
Background The purpose of this study was to explore neuroretinal transplantation in a large animal model of severe retinitis pigmentosa
and to establish graft development, long-term survival, graft-host integration, and effects on the host retina.
Methods Rhodopsin transgenic pigs, aged 6 months, received in one eye a fetal full-thickness neuroretinal sheet in the subretinal
space by means of vitrectomy and retinotomy. Six months postoperatively, eyes were studied in the light microscope and with
immunohistochemical markers. Full-field electroretinography (ERG) was performed at 4 and 6 months.
Results Laminated grafts with well-organized photoreceptors, rod bipolar cells, and Müller cells were found in five of six eyes. Neuronal
connections between graft and host retina were not seen. In the five eyes containing a graft, the number of surviving rods
in the host retina was significantly higher compared with unoperated eyes. The ERG did not reveal any significant difference
in b-wave amplitude between operated and control eyes, but the cone-derived response in operated eyes increased significantly
from 4 to 6 months while the rod response in control eyes decreased significantly.
Conclusions Fetal full-thickness neuroretina can be transplanted safely to an eye with severe retinal degeneration. In their major part,
the transplants develop a normal laminated morphology and survive for at least 6 months. Graft and host retinal neurons do
not form connections. Retinal function in the host is reduced initially by the surgical trauma, but the presence of a well-laminated
graft counteracts this effect and rescues rods from degeneration.
Supported by The Foundation Fighting Blindness (grant# C-NC02-798-0078), The Faculty of Medicine, University of Lund, The
Swedish Research Council, The Princess Margaretas Foundation for Blind Children, The 2nd ONCE International Award for New
Technologies for the Blind. 相似文献
55.
预变神经段修复神经缺损的实验研究 总被引:5,自引:2,他引:3
目的探讨不同预变时间组移植神经对神经再生的影响。方法以SD大鼠的不同预变时间组的尺神经作为移植神经,修复其正中神经的缺损。实验侧按移植神经预变时间的不同分为0、1、2、3、4、8周共6组,每组6只SD大鼠。移植后12周,检测实验侧趾屈肌群的张力、最大收缩力、再生神经的形态及神经轴突的截面积。结果用预变1周的尺神经修复正中神经后,其趾屈肌群的张力及最大收缩力的恢复率达到正常对照组的81.1%及85.9%。显微镜下观察,预变1周组和其它各时间组相比,其再生的神经轴突最多,发育最成熟。结论用预变1周的神经段修复神经缺损,其神经再生能力最佳 相似文献
56.
Toshio Mizutani Ken-ichi Nakamura Mutsuo Enomoto Masuhiro Sakata Shigeo Yamada 《Neuropathology》1998,18(1):80-90
A neuropathological study on 1540 consecutive autopsy brains ranging from 60 to 107 years of age revealed the following points. (1) Of the of the demented cases of the plaque-predominant type, 93% were complicated with multiple tiny cortical infarcts. They showed a tendency for dementia to develop before or after the appearance or worsening of a systemic disorder such as cardiovascular disease, respiratory infection and cancer. However, there was no case showing Alzheimer-type dementia (ATD). (2) The plaque-predominant type might be an extreme condition of brain aging in terms of senile plaques (SP). It is likely that although the pathological appearance of SP alone is not responsible for dementia, its coexistence with multiple cortical infarcts could be the cause of dementia. Therefore, this type should be distinguished from ATD. (3) Primary hippocampal degeneration could also be an extreme condition of brain aging in terms of neurofibrillary tangles. This condition was different pathologically from the hippocampal lesion in ATD. (4) Several characteristics of old-old and oldest-old patients were clarified. 相似文献
57.
T. Mizutani S. Sakamaki N. Tsuchiya S. Kamei H. Kohzu R. Horiuchi M. Ida R. Shiozawa T. Takasu 《Acta neuropathologica》1992,84(4):372-377
Summary We describe two patients with sporadic amyotrophic lateral sclerosis (ALS), who had developed progressive external ophthalmoplegia of a predominantly supranuclear type while they survived on respirators, and displayed histopathological abnormalities both typical and atypical of ALS. Patient 1 was a 43-year-old man with ALS of 5-year duration, who had initially exhibited fulminant ALS, and remained on a respirator for 4 years. Patient 2 was a 51-year-old man with ALS of 13-year duration, who remained on a respirator for 8 years. Both patients died in a totally locked-in state. Autopsy of both patients revealed not only histopathological abnormalities consistent with ALS, but also multisystem degeneration which involved the pontine tegmentum, substantia nigra, Clarke's dorsal nuclei and spinocerebellar tracts. In addition, Patient 2 displayed intracyto-plasmic neuronal basophilic inclusion bodies which exhibited marked immunoreactivity to anti-ubiquitin antibodies. Our case reports indicate that the longer survival which is possible through the use of respirators may make one subgroup of ALS patients prone to develop atypical clinical and neuropathological features which are not observed during the natural cours of ALS.Supported by a Grant-in-Aid from the Research Committee of CNS Degenerative Diseases, the Ministry of Health and Welfare of Japan, and by a Grant from Nihon University School of Medicine, Tokyo 相似文献
58.
Electrophysiological properties were monitored in detail in chronically constricted peripheral nerves by implanted, multicontact nerve cuff electrodes and correlated with morphometric histology in selected cases. The physiological and histological responses in nerve to a range of constricting cuffs of standard sizes were readily graded. The initial response to any significant constriction was a transient, focal conduction slowing or block at the constriction, followed by more protracted distal effects; the latter ranged from loss of excitability consistent with "dying-back" degeneration to reductions in conduction velocity consistent with histologically observed atrophy. Smaller myelinated fibers tended to have similar but less pronounced changes than larger diameter fibers. Recordings from ventral and dorsal roots showed that distal degeneration was more pronounced in motor than in sensory fibers of similar caliber. Electronmicroscopical measurements showed that basal laminas were relatively preserved around even the most atrophic and demyelinated axons. Perimeter measurements of the basal lamina could be used to estimate the diameter of the original nerve fiber. 相似文献
59.
W. W. Dawson R. J. Ulshafer H. M. Engel G. M. Hope M. J. Kessler 《Documenta ophthalmologica. Advances in ophthalmology》1989,71(3):253-263
During (January) 1986–(May) 1988, we examined 272 eyes in 136 rhesus monkeys in the closed Cayo Santiago colony of the Caribbean Primate Research Center of the University of Puerto Rico. Seventy-eight eyes were less than 10 years of age. One hundred and ninety-four were aged 10–28 years. The fundi were examined and photographed. Fluorescein angiography was performed in some eyes. Selected cases were evaluated for acuity loss by recording of pattern-evoked retinal and cortical signals. Light and electron microscopy were used to evaluate the pigment epithelium of some animals. Thirty-eight percent of all eyes had posterior pole drusen. Incidence was highly age-related. When late-stage lesions were found, we did not see neovascularization, but late hyperfluorescence was consistent with degenerative scarring and atrophy. Electrophysiology demonstrated moderately reduced acuity in the presence of numerous macular drusen. Electrooculograms were low normal. Histopathology showed changes identical to those reported in human age-related macular degeneration. No eyes less than 10 years of age had confluent drusen or disciform-like lesions. The incidence of drusen in samples of some social groups was much higher than others. 相似文献
60.
兔腰椎间盘退变模型的建立及影像学分析 总被引:9,自引:3,他引:9
目的:建立腰椎间盘退变的动物模型并进行CR和MRI观察.方法:选用新西兰兔20只,沿右腹直肌外缘做15 cm长切口,钝性剥离腹膜至腰椎横突前外侧,咬除右侧L5、L6横突,显露上述节段椎间盘,斜形切开纤维环约1.5 mm,未伤及髓核,然后逐层缝合.所有动物在标准条件下饲养,分别于术后2、4、8、20、40周行腰椎计算机x线摄影术(CR)和核磁共振成像(MRI)以检测终板下骨及髓核的变化.结果:术后作为自体对照组的L1、2、L2、3椎间盘未见异常,而手术组L4、5、L5、6椎间盘则相继出现T2加权像低信号、腰椎不稳畸形,终板下骨质硬化,椎体边缘骨赘增生,椎间隙变窄,椎间盘后突和硬膜囊受压等改变.对手术节段及其邻近和完全正常节段椎间盘髓核信号值的定量分析显示,手术组椎间盘T2加权像信号值减低在术后4、8、20、40周与正常对照组对比具有统计学意义,而临近椎间盘L3、4、L6、7手术8周后与正常椎间盘对比有显著差异.CR扫描结果显示:手术节段椎间盘终板下信号值减低与对照组相比4周后就开始有显著差异.结论:应用纤维环切开法可获得可靠的新西兰大白兔椎间盘退变模型,可通过MRI及CR在早期加以证实. 相似文献