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991.
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Richard A. Armstrong William Ellis Ronald L. Hamilton Ian R. A. Mackenzie John Hedreen Marla Gearing Thomas Montine Jean-Paul Vonsattel Elizabeth Head Andrew P. Lieberman Nigel J. Cairns 《Journal of neural transmission (Vienna, Austria : 1996)》2010,117(2):227-239
Studies suggest that frontotemporal lobar degeneration with transactive response DNA-binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP) is heterogeneous with division into four or five subtypes. To determine the degree of heterogeneity and the validity of the subtypes, we studied neuropathological variation within the frontal and temporal lobes of 94 cases of FTLD-TDP using quantitative estimates of density and principal components analysis (PCA). A PCA based on the density of TDP-43 immunoreactive neuronal cytoplasmic inclusions, oligodendroglial inclusions, neuronal intranuclear inclusions, and dystrophic neurites, surviving neurons, enlarged neurons, and vacuolation suggested that cases were not segregated into distinct subtypes. Variation in the density of the vacuoles was the greatest source of variation between cases. A PCA based on TDP-43 pathology alone suggested that cases of FTLD-TDP with progranulin (GRN) mutation segregated to some degree. The pathological phenotype of all four subtypes overlapped but subtypes 1 and 4 were the most distinctive. Cases with coexisting motor neuron disease (MND) or hippocampal sclerosis (HS) also appeared to segregate to some extent. We suggest: (1) pathological variation in FTLD-TDP is best described as a ‘continuum’ without clearly distinct subtypes, (2) vacuolation was the single greatest source of variation and reflects the ‘stage’ of the disease, and (3) within the FTLD-TDP ‘continuum’ cases with GRN mutation and with coexisting MND or HS may have a more distinctive pathology. 相似文献
995.
G Peach GA Antoniou K El Sakka M Hamady 《Annals of the Royal College of Surgeons of England》2010,92(6):e3-e4
Traumatic arterial spasm is a phenomenon that has long been questioned by clinicians. Indeed, some would argue that surgical exploration is mandatory whenever there are signs of distal ischaemia following limb trauma. We present a case of angiographically demonstrated tibial artery spasm following gunshot injury. Exploration was unnecessary and distal perfusion was reestablished spontaneously. This case demonstrates the existence of traumatic arterial spasm as a genuine clinical entity and suggests that immediate surgical exploration may not be necessary in all cases. 相似文献
996.
GA Chiu K Nisar S Shetty AJ Baldwin 《Annals of the Royal College of Surgeons of England》2010,92(4):e15-e17
A 36-year-old man presented to his general dental practitioner with pain in the right jaw and neck. This was initially treated as a dento-alveolar abscess. Three days later, he presented to the oral and maxillofacial unit with neck swelling to the right side. An ultrasound confirmed the swelling was due to thrombosis associated with remnants of a ventriculo-atrial (VA) shunt in the right internal jugular vein. This had been placed during the patient’s infancy and apparently removed at the age of 8 years. The patient was treated conservatively with warfarin and Coamoxyclav. The patient made a full recovery and was placed on long-term anticoagulant therapy. The introduction of cerebral spinal fluid shunt procedures for the treatment of hydrocephalus has resulted in a reduction in the mortality rate from 80% to 15–20%. Various thrombo-embolic complications have been described with VA shunts. A thorough medical history is absolutely essential in order to identify uncommon causes of common presentations. 相似文献
997.
David G. Munoz Manuela Neumann Hirofumi Kusaka Osamu Yokota Kenji Ishihara Seishi Terada Shigetoshi Kuroda Ian R. Mackenzie 《Acta neuropathologica》2009,118(5):617-627
Basophilic Inclusion Body Disease (BIBD) is a tau-negative form of frontotemporal lobar degeneration (FTLD), characterized
by neuronal cytoplasmic inclusions (NCI) that are visible on hematoxylin and eosin stain (HE), contain RNA, and are inconsistently
ubiquitin-immunoreactive (ir). The normal nuclear expression of TDP-43 is not altered. Here we investigate whether the distribution
of the structurally and functionally related protein fused in sarcoma (FUS) is altered in BIBD. Mutations in the FUS gene have recently been identified as a cause of familial amyotrophic lateral sclerosis (ALS). In addition to these familial
ALS cases, FUS protein has recently been demonstrated in NCI in a subset of FTLD with ubiquitinated inclusions (atypical FTLD-U)
and in neuronal intermediate filament inclusion disease (NIFID). We examined seven BIBD brains of patients with average age
at onset 46 (range 29–57) and average duration of disease 8 years (range 5–12). Three cases presented with the behavioural
variant of fronto-temporal dementia (FTD-bv) and one with FTD-bv combined with severe dysarthria. All four developed motor
neuron disease/ALS syndrome (MND/ALS) several years later. In the other three cases, presentation was predominantly with motor
symptoms, construed as MND/ALS in two, and progressive supranuclear palsy (PSP) in one. Severity of cortical degeneration
varied, but all cases shared severe nigrostriatal atrophy and lower motor neuron pathology. In spared areas of cortex, FUS
antibodies showed intense labelling of neuronal nuclei and weak positivity of cytoplasm, whereas, in affected areas, intense
labelling of NCI was accompanied by reduction or disappearance of the normal IR pattern. The number of FUS-ir NCI was much
greater than the number detected by HE or with ubiquitin or P62 immunohistochemistry. FUS-ir glial cytoplasmic inclusions
(GCI) were abundant in the grey and white matter in all cases, whereas neuronal intranuclear inclusions were rare and only
seen in 2/7 cases. Thus, BIBD shares with atypical FTLD-U and NIFID the presence of FUS-ir NCI and GCI, and together comprise
a new biochemical category of neurodegenerative disease (FUS proteinopathies). The consistent involvement of motorneurons
in BIBD indicates that the association of FTLD and MND/ALS can occur on a FUS or TDP-43 pathological substrate. 相似文献
998.
999.
GnRH-a治疗真性性早熟的临床研究 总被引:2,自引:0,他引:2
目的:观察长效缓释促性腺激素释放激素类似物(GnRH—a)类药物对特发性真性性早熟的短期治疗效果。方法:以曲普瑞林(商品名达菲林)(剂量为体重≥20kg者3.75mg/月,体重〈20kg者1.875mg/月)对18例患儿行皮下注射治疗。采用配对资料t检验对患儿治疗前后的各项指标进行比较。结果:女性患儿治疗后94.4%(16/18)乳房回缩,5例有月经者在1个月后即停经;治疗后子宫卵巢明显缩小(P〈0.05);黄体生成素(LH)峰值由(18.25±8.28)mIU/ml降至(5.70±1.55)mlU/ml(P〈0.001),卵泡刺激素(FSH)峰值由(15.56±8.18)mlU/ml降至(4.53±2.20)mIU/ml(P〈0.001),雌二醇(E2)峰值、基础值和LH、FSH基础值的改变无统计学意义;骨龄无明显增加,骨龄/年龄比下降。结论:用长效GnRH—a治疗真性性早熟均能达到快速的实验室和临床抑制效果。 相似文献
1000.