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排序方式: 共有519条查询结果,搜索用时 15 毫秒
41.
BACKGROUND: Genetic and environmental factors contribute to an individual's sensitivity to ethanol, although the exact genes underlying ethanol's effects are not known. Quantitative trait locus (QTL) mapping is one successful method for provisionally identifying genes participating in the mediation of a given behavior. QTL analyses seek to identify associations between a quantitative response and previously mapped marker genes across genetically diverse individuals. Many QTL analyses have been performed in BXD recombinant inbred (RI) strains of mice derived from a cross of C57BL/6J (B6) and DBA/2J (D2) progenitor strains. METHODS: We conducted a QTL analysis of ethanol-induced loss of righting reflex and ataxia using a panel of 25 BXD RI strains and the progenitors B6 and D2. We measured the duration of loss of righting reflex after injection and blood ethanol concentrations upon regaining of righting reflex. Ataxia was measured as the latency to fall from a vertical screen. RESULTS: Genome-wide QTL analyses correlating strain means with allelic status at >1500 markers identified several associations (p < or = 0.01). These provisional QTLs were on all chromosomes except 2, 5, 12, 13, and X, and several map near potential candidate genes. CONCLUSIONS: These results suggest that ethanol sensitivity is determined by the actions of multiple genes and further suggest their general chromosomal map locations. These provisional linkages will now be confirmed or rejected using additional genetically segregating populations. 相似文献
42.
Sanguineti I. Tredici G. Beghi E. Aiello U. Boglium G. Lelio A. Di Tagliabue M. 《The Italian Journal of Neurological Sciences》1986,7(1):51-59
20 new cases of ataxic hemiparesis syndrome (AHS) are reported and the findings compared with those of published cases. AHS may be due to lesions either of the brainstem or of supratentorial structures, where motor fibers run together with the cerebro-cerebellar pathways. Specific syndromes related to the lesion site cannot be identified from the clinical signs. Ischemic infarct is the most frequent cause of the syndrome, but hemorrhagic, neoplastic and demyelinating lesions have also been reported.
Sommario Venti nuovi casi di emiparesi atassica sono stati osservati e confrontati con casi della letteratura. L'emiparesi atassica può conseguire a lesioni del tronco cerebrale o delle strutture sovratentoriali laddove le fibre motorie decorrono insieme alle vie cerebro-cerebellari. I quadri clinici osservati non consentono pertanto di identificare specifiche sindromi caratterizzate da danni anatomici comuni. Per quanto l'infarto ischemico ne sia di gran lunga la causa più frequente, l'emiparesi atassica è riportata anche in presenza di lesioni emorragiche, neoplastiche e demielinizzanti.相似文献
43.
P. Serrano-Aguilar M.M. Trujillo-Martín J.M. Ramos-Goi V. Mahtani-Chugani L. Perestelo-Prez M. Posada-de la Paz 《Social science & medicine (1982)》2009,69(6):920
This study aims to incorporate patients’ perspective in the design of a systematic review of scientific literature on the effectiveness of degenerative ataxias (DA) treatments. 53 patients with DA from different regions of Spain were consulted using the Delphi method, with three rounds via e-mail. In the first round, obtained information was on treatments used and relevant self-perceived health problems related to DA. The following two rounds were used to prioritize and achieve a consensus on the answers.The participation rate was 100% for all rounds. The most relevant self-perceived health problems were limitations in activities of daily living (ADL), visual and auditory problems and diminished self-esteem. The bibliographic search for the systematic review was enriched by these patient contributions. No study offered information on treatment effectiveness for the following problems prioritized by patients: ADL, social relationships, disease acceptance and quality of life.Thus some of the self-perceived DA-related health problems identified by the patients have never been investigated and should be considered to improve future research projects which should be adapted to meet patients’ needs. Effective participation of patients can extend the value of systematic reviews to ensure they respond to both clinicians’ information needs and patients’ expectations. 相似文献
44.
Hassan Abolhassani Janet Chou Wayne Bainter Craig D. Platt Mahmood Tavassoli Tooba Momen Marzieh Tavakol Mohammad Hossein Eslamian Mohammad Gharagozlou Masoud Movahedi Mohsen Ghadami Amir Ali Hamidieh Gholamreza Azizi Reza Yazdani Mohsen Afarideh Alireza Ghajar Arash Havaei Zahra Chavoshzadeh Asghar Aghamohammadi 《The Journal of allergy and clinical immunology》2018,141(4):1450-1458
45.
共济失调毛细血管扩张症(ataxia telangiectasis,A-T)是由ATM(ataxia telangiectasis mutant)基因突变所致,其突出特点是对放射线敏感.为探讨K562和SiHA两种肿瘤细胞株ATM表达量与γ-射线照射后细胞周期阻滞即自我保护功能之间的关系,应用半定量RT-PCR测量它们的ATM mRNA表达,同时以6、10和15 Gy 60Co γ射线分别照射细胞,并于照射后6、12、24、48及60小时观察细胞周期阻滞现象和凋亡率的变化.结果显示,K562细胞株ATM RNA相对表达量为0.04,而在SiHA细胞株为0.80,SiHA的ATM RNA表达量约为K562的20倍.结论:照射后K562和SiHA细胞株均表现G2/M期阻滞,K562细胞周期阻滞即自我保护机制明显比SiHA差. 相似文献
46.
Candice E. Van Skike Paolo Botta Vivien S. Chin Sayaka Tokunaga Janelle M. McDaniel Jacob Venard Jaime L. Diaz‐Granados C. Fernando Valenzuela Douglas B. Matthews 《Alcoholism, clinical and experimental research》2010,34(12):2070-2080
Background: Adolescent rats are less sensitive to the motor‐impairing effects of ethanol than adults. However, the cellular and molecular mechanisms underlying this age‐dependent effect of ethanol have yet to be fully elucidated. Method: Male rats of various ages were used to investigate ethanol‐induced ataxia and its underlying cellular correlates. In addition, Purkinje neurons from adolescent and adult rats were recorded both in vivo and in vitro. Finally, protein kinase C (PKCγ) expression was determined in 3 brain regions in both adolescent and adult rats. Results: The present multi‐methodological investigation confirms that adolescents are less sensitive to the motor‐impairing effects of ethanol, and this differential effect is not because of differential blood ethanol levels. In addition, we identify a particular cellular correlate that may underlie the reduced motor impairment. Specifically, the in vivo firing rate of cerebellar Purkinje neurons recorded from adolescent rats was insensitive to an acute ethanol challenge, while the firing rate of adult cerebellar Purkinje neurons was significantly depressed. Finally, it is demonstrated that PKCγ expression in the cortex and cerebellum mirrors the age‐dependent effect of ethanol: adolescents have significantly less PKCγ expression compared to adults. Conclusions: Adolescents are less sensitive than adults to the motor‐impairing effects of ethanol, and a similar effect is seen with in vivo electrophysiological recordings of cerebellar Purkinje neurons. While still under investigation, PKCγ expression mirrors the age effect of ethanol and may contribute to the age‐dependent differences in the ataxic effects of ethanol. 相似文献
47.
Yasushi Iwasaki Mayuki Kizawa Norio Hori Tetsuyuki Kitamoto Gen Sobue 《Clinical neurology and neurosurgery》2009
We describe the clinical features of a patient with Gerstmann-Sträussler-Scheinker syndrome with a mutation in the prion protein gene at codon 105 (GSS105) who presented with ataxia. Neurologic examination showed memory disturbance, dysarthria, extrapyramidal signs (bradykinesia and resting tremor) and ataxic gait without spasticity. Although GSS105 has been referred to as “spastic paraparesis-type GSS”, the patient did not show spastic paraparesis or pyramidal signs, even 11 years after the onset of symptoms. Thus, the spectrum of the GSS105 phenotype varies among patients and requires further clinicopathologic elucidation. 相似文献
48.
Aim
Acute cerebellar ataxia (ACA, sudden onset of truncal ataxia and gait disturbances) usually follows a benign illness (25% varicella). It is also described after vaccination, like MMR and varicella zoster virus (VZV). We will establish incidence rates of (varicella related) ACA and assess the attributable risk of vaccination to ACA in the Netherlands.Method
Data on ACA in children, following infections, like varicella, and vaccinations, obtained from prospective, active pediatric surveillance and passive surveillance on adverse events following immunizations (AEFI) were compared with hospitalization data for ataxia. Capture–recapture (CRC) method was used to estimate the burden of ACA in the Netherlands.Results
45 children with ACA were included (44 and 1 reported by pediatric and AEFI surveillance respectively, 30 were hospitalized). Chickenpox preceded ACA in 15 cases, one case followed MMR. Of the hospitalization reports, 13 fulfilled the criteria for ACA. Using CRC the estimated number of hospitalized ACA cases was 42. For varicella related ACA, this estimate was 10, resulting in an incidence rate of 0.7:100,000 (95%CI 0.52–0.94, all cases) and 0.17:100,000 (95%CI 0.09–0.31, varicella related cases) for children under 15 years of age.Conclusion
The incidence rates were comparable with other studies. We found no association with MMR, but chickenpox was clearly related to ACA. According to age-specific seroprevalence data the incidence rate of ACA was 5:100,000 VZV infections for children up to 5 years, compared to an ACA-reporting rate of 0.15:100,000 doses VZV-vaccine. Therefore, uptake of VZV-vaccine in the immunization programme will diminish the incidence rate of ACA. 相似文献49.
Delplanque J Devos D Vuillaume I De Becdelievre A Vangelder E Maurage CA Dujardin K Destée A Sablonnière B 《Cerebellum (London, England)》2008,7(2):179-183
Spinocerebellar ataxia 21 is a slowly progressive and mild ataxia associated with extrapyramidal signs. Affected subjects
exhibit a moderate gait and limb ataxia variably associated with akinesia, tremor, rigidity, hyporeflexia, and mild cognitive
impairment. The responsible gene has been assigned to a 19 Mbases interval on chromosome 7p in a single French family. No
evidence of significant linkage to this locus was found in 21 other families obtained from the EUROSCA consortium. The locus
interval contains several candidate genes that could be responsible for the disease. Direct sequencing of NDUFA4, PHF14, KIAA0960, ARLA4, ETV1, DGKB, HDAC9, FERD3L, ITGB8, and SP4 genes were performed, but all the direct mutation analyses were negative excluding pathogenic mutations associated with the
disease. Therefore, the gene responsible for SCA21 remains to be identified. 相似文献
50.
Hay DA 《Cortex; a journal devoted to the study of the nervous system and behavior》2008,44(6):626-627
Cornish et al. (2008, this issue) provide an excellent review of Fragile X a common but very complex cause of intellectual disability. They report on a cohort of such males of normal intelligence quotient (IQ) and socioeconomic status (SES), but who have deficits in selective attention and growing impairment in response inhibition. This paper has theoretical views for our models of the mind and clinical implications for families where Fragile X may never have been considered as a possible cause of some of the problems in male and female family members and possibly as well for other disorders such as attention deficit hyperactivity disorder (ADHD) and autism. 相似文献