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121.
122.
Vig PJ Lopez ME Wei J D'Souza DR Subramony S Henegar J Fratkin JD 《Journal of neurological sciences (Turkish)》2006,23(3):166-174
Spinocerebellar ataxia-1 (SCA1) is caused by the expansion of a polyglutamine repeat within the disease protein, ataxin-1. The overexpression of mutant ataxin-1 in SCA1 transgenic mice results in the formation of cytoplasmic vacuoles in Purkinje neurons (PKN) of the cerebellum. PKN are closely associated with neighboring Bergmann glia. To elucidate the role of Bergmann glia in SCA1 pathogenesis, cerebellar tissue from 7 days to 6 wks old SCA1 transgenic and wildtype mice were used. We observed that Bergmann glial S100B protein is localized to the cytoplasmic vacuoles in SCA1 PKN. These S100B positive cytoplasmic vacuoles began appearing much before the onset of behavioral abnormalities, and were negative for other glial and PKN marker proteins. Electron micrographs revealed that vacuoles have a double membrane. In the vacuoles, S100B colocalized with receptors of advanced glycation end-products (RAGE), and S100B co-immunoprecipated with cerebellar RAGE. In SCA1 PKN cultures, exogenous S100B protein interacted with the PKN membranes and was internalized. These data suggest that glial S100B though extrinsic to PKN is sequestered into cytoplasmic vacuoles in SCA1 mice at early postnatal ages. Further, S100B may be binding to RAGE on Purkinje cell membranes before these membranes are internalized. 相似文献
123.
Albert H Park Jonathan Warner Nanette Sturgill Stephen C Alder 《Otolaryngology--head and neck surgery》2006,134(5):794-800
OBJECTIVE: Assess parental perceptions of their child's sensorineural hearing loss care. METHODS: Families of pediatric patients diagnosed with a sensorineural hearing loss from 2000 to 2004 were sent a survey asking about their experiences with their child's hearing loss. RESULTS: One hundred eight of 389 families surveyed were studied. Thirteen percent did not know the results of the newborn screening. Twenty-two percent of the primary care physicians were not involved in the child's hearing evaluation. Forty percent of the patients underwent 4 or more audiologic tests before a diagnosis. The most common reason for delayed diagnosis was difficulty in obtaining an appointment with an audiologist. Sixty-two percent of families had difficulties obtaining hearing aids, and 58% noted difficulties obtaining cochlear implants. CONCLUSIONS: Families reported multiple obstacles to obtain timely diagnosis and treatment. Otolaryngologists may need to be more involved in the evaluation and treatment of these patients. EBM rating: C-4. 相似文献
124.
Rest thallium-201 myocardial perfusion imaging in a patient with leukaemic infiltration of the heart
A. Cahid Civelek Jeffrey A. Brinker Edwaldo E. Camargo Jonathan M. Links Henry N. Wagner Jr. 《European journal of nuclear medicine and molecular imaging》1992,19(4):306-308
Despite the high incidence of leukaemic infiltration of the heart, only 8 cases of atrioventricular block due to leukaemia have been reported in the literature. Improvement in the heart block associated with disappearance of the leukaemic infiltrate has not been reported. A rest thallium-201 study was used in a 65-year-old man to demonstrate leukaemic infiltration of the heart which was associated with complete heart block. After chemotherapy, when the tumour burden was reduced and the leukaemia in remission, his heart block resolved, and a follow-up thallium scan was normal.
Offprint requests to: A.C. Civelek 相似文献
125.
Deborah Y Chong Parima Hirunwiwatkul Paul E McKeever Jonathan D Trobe 《Journal of neuro-ophthalmology》2007,27(1):50-54
A 5-year-old girl with progressive hemiparesis and headache was found by brain imaging to have a large tumor centered at the foramen of Monro, blocking cerebrospinal outflow and producing massive lateral ventriculomegaly. Total excision of the mass led to a pathologic diagnosis of giant cell astrocytoma. Dermatologic abnormalities had been detected shortly after birth but were unexplained. Abdominal imaging disclosed renal cysts, and ophthalmologic examination disclosed papilledema and retinal plaques. On this basis, a diagnosis of tuberous sclerosis (TS) was finally made. Two months after surgery, papilledema had resolved, and visual function appeared to be normal. Although the patient apparently escaped visual loss, other reports affirm that giant cell astrocytoma, a common tumor in TS, may go undetected for long enough to produce irreversible optic neuropathy from chronic papilledema. Because patients with TS may not report visual loss, they should undergo periodic ophthalmologic screening. 相似文献
126.
127.
Lee L. Eckhardt MD Amanda L. Farley MS Esther Rodriguez MD Karen Ruwaldt BS Daniel Hammill David J. Tester BS Michael J. Ackerman MD PhD Jonathan C. Makielski MD 《Heart rhythm》2007,4(3):323-329
BACKGROUND: Loss-of-function mutations in the KCNJ2 cause approximately 50% of Andersen-Tawil Syndrome (ATS) characterized by a classic triad of periodic paralysis, ventricular arrhythmia, and dysmorphic features. Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS? OBJECTIVES: The purpose of this study was to identify and characterize mutations in the KCNJ2-encoded inward rectifier potassium channel Kir2.1 from patients referred for genetic arrhythmia testing. METHODS: Mutational analysis of KCNJ2 was performed for 541 unrelated patients. The mutations were made in wild type (WT) and expressed in COS-1 cells and voltage clamped for ion currents. RESULTS: Three novel missense mutations (R67Q, R85W, and T305A) and one known mutation (T75M) were identified in 4/249 (1.6%) patients genotype-negative for other known arrhythmia genes with overall incidence 4/541 (0.74%). They had prominent U-waves, marked ventricular ectopy, and polymorphic ventricular tachycardia but no facial/skeletal abnormalities. Periodic paralysis was present in only one case. Outward current was decreased to less than 5% of WT for all mutants expressed alone. Co-expression with WT (simulating heterozygosity) caused a marked dominant negative effect for T75M and R82W, no dominant negative effect for R67Q, and a novel selective enhancement of inward rectification for T305A. CONCLUSIONS: KCNJ2 loss of function mutations were found in approximately 1% of patients referred for genetic arrhythmia testing that lacked criteria for ATS. Characterization of three new mutations identified a novel dominant negative effect selectively reducing outward current for T305A. These results extend the range of clinical phenotype and molecular phenotype associated with KCNJ2 mutations. 相似文献
128.
Monica J. Carson Tina V. Bilousova Shweta S. Puntambekar Benoit Melchior Jonathan M. Doose Iryna M. Ethell 《Neurotherapeutics》2007,4(4):571-579
Microglial activation and macrophage infiltration into the CNS are common features of CNS autoimmune disease and of chronic
neurodegenerative diseases. Because these cells largely express an overlapping set of common macrophage markers, it has been
difficult to separate their respective contributions to disease onset and progression. This problem is further confounded
by the many types of macrophages that have been termed microglia. Several approaches, ranging from molecular profiling of
isolated cells to the generation of irradiation chimeric rodent models, are now beginning to generate rudimentary definitions
distinguishing the various types of microglia and macrophages found within the CNS and the potential roles that these cells
may play in health and disease. 相似文献
129.
Jonathan Appel Dohee Kim-Appel 《International journal of mental health and addiction》2007,5(3):248-253
Since the 1990s, there has been a rise in the availability and recreational use of a herbal plant called Salvia divinorum. Numerous internet websites have advertised it for sale as a legal herbal alternative to illegal hallucinogens. Initial data
surveying use has indicated many young adults are obtaining and using this herb for its psychoactive properties. Reported
methods of ingestion for the plant include chewing, and smoking leaves or fortified extracts. Subjective effects of the plant
include, affect changes, psychedelic-like changes in perception, and even loss of consciousness. Although the pharmacological
properties and possible antidepressant effects have been studied in recent years, little information is known about potential
negative impact resulting from recreational use, and scant information about Salvia divinorum currently exists in the psychological
and substance abuse literature. While Salvia divinorum appears to be a substance with some therapeutic potential, it also
poses some significant dangers as a substance of varying legal status with a potential for abuse. 相似文献
130.
Cytomegalovirus Disease in High-Risk Transplant Recipients Despite Ganciclovir or Valganciclovir Prophylaxis 总被引:10,自引:0,他引:10
Enver Akalin Vinita Sehgal Scott Ames Sabera Hossain Lisa Daly Murphy Barbara Jonathan S. Bromberg 《American journal of transplantation》2003,3(6):731-735
The clinical patterns and predictors of cytomegalovirus (CMV) disease in kidney and/or pancreas transplant patients on ganciclovir (1.0 g po t.i.d.) or valganciclovir (450 mg po q.d.) prophylaxis were studied. This is a retrospective analysis of 129 transplant recipients. Median follow up was 12 months (range, 6-18 months). The overall incidence of CMV disease at 1-year post-transplant was 14% (4% tissue-invasive, 10% noninvasive). Seventeen of 18 patients were diagnosed with CMV after completion of 3 months' prophylaxis (median 8 weeks, range, 2-28 weeks). Induction treatment with thymoglobulin, and Donor +/Recipient - CMV status were the strongest predictors for the development of CMV disease. Cytomegalovirus incidence was not different between patients treated with ganciclovir or valganciclovir (15 vs. 17%, respectively). Valganciclovir (450 mg q.d.) is as effective as oral ganciclovir in CMV prophylaxis. High-risk individuals might require higher doses or longer duration of valganciclovir treatment. 相似文献