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91.
Miriam Coelho Molck Társis Paiva Vieira Ilária Cristina Sgardioli Milena Simioni Ana Paula dos Santos Josiane Souza Fabíola Paoli Monteiro Vera Lúcia Gil-da-Silva-Lopes 《European journal of medical genetics》2013,56(9):515-520
The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number abnormalities overlapping or not with the common ~3 Mb deletion. They were investigated by G-banding karyotype, Multiplex-ligation dependent probe amplification (MLPA) and array Genomic Hibridization (aGH). Clinical and molecular data were compared with literature, in order to contribute to genotype–phenotype correlation. Atypical chromosomal abnormalities were detected: 3.6 Mb deletion at 22q11.21-q11.23 between LCRs B–F in patient 1 and approximately 1.5 Mb deletion at 22q11.21-q11.22 between LCRs D–E in patients 2 and 3. The breakpoints detected in patient 1 have not been previously described. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 region and corroborates the idea that genetic modifiers contribute to the phenotypic variability observed in proximal and distal 22q11.2 deletion syndromes. 相似文献
92.
Ernil Hansen Milena Seemann Nina Zech Christian Doenitz Ralf Luerding Alexander Brawanski 《Acta neurochirurgica》2013,155(8):1417-1424
Background
Temporary anaesthesia or analgosedation used for awake craniotomies carry substantial risks like hemodynamic instabilities, airway obstruction, hypoventilation, nausea and vomiting, agitation, and interference with test performances. We tested the actual need for sedatives and opioids in 50 patients undergoing awake craniotomy for brain tumour resection in eloquent or motoric brain areas when cranial nerve blocks, permanent presence of a contact person, and therapeutic communication are provided.Methods
Therapeutic communication was based on the assumption that patients in such an extreme medical situation enter a natural trance-like state with elevated suggestibility. The anaesthesiologist acted as a continuous guide, using a strong rapport, nonverbal communication, hypnotic suggestions, such as dissociation to a “safe place”, and the reframing of disturbing noises, while simultaneously avoiding negative suggestions. Analgesics or sedatives were at hand according to the principle “as much as necessary, but not more than needed”.Results
No sedation was necessary for any of the patients besides for the treatment of seizures. Only two-thirds of the patients requested remifentanil, with a mean dosage of 96 μg before the end of tumour resection and a total of 156 μg. Hemodynamic reactions indicative of stress were mainly seen during nerve blockades and neurological testing. Postoperative vigilance tests showed equal or higher scores than preoperative tests.Conclusions
The main challenges for patients undergoing awake craniotomies include anxiety and fears, terrifying noises and surroundings, immobility, loss of control, and the feeling of helplessness and being left alone. In such situations, psychological support might be more helpful than the pharmacological approach. With adequate therapeutic communication, patients do not require any sedation and no or only low-dose opioid treatment during awake craniotomies, leaving patients fully awake and competent during the entire surgical procedure without stress. This approach can be termed “awake-awake-awake-technique”. 相似文献93.
Furtado PS Costa MP Ribeiro do Prado Valladares F Oliveira da Silva L Lordêlo M Lyra I Barroso U 《International journal of hematology》2012,95(6):648-651
To evaluate priapism rates in individuals <18 years of age with sickle cell disease (SCD) at a referral center. An evaluation was made of 599 consecutive male patients with SCD, separated according to type of hemoglobinopathy (HbSS, HbSC and HbS-β-thalassemia). Age at first episode and number of episodes were recorded. Cases of sickle cell trait were excluded. Mean age was similar in all groups. Overall, priapism occurred in 3.6 % of patients (5.6 % of those with HbSS and 1.1 % of those with HbSC; P = 0.01). In HbSS patients, the prevalence rate of priapism was from 3.5 (CI 95 % 0.94-13.4) when compared with patients with HbSC. No patient with β-thalassemia had priapism. Mean follow-up was 39.7 months (range 1-202 months). Since 91 % of patients with priapism had HbSS, this group was evaluated separately, revealing a rate of priapism of 1.6 % in patients <10 years and 8.3 % in those ≥ 10 years of age (P = 0.002). Regarding priapism in HbSS patients ≥ 10 years (8.3 %) when compared with patients <10 years (1.6 %), the prevalence rate was from 3.3 (CI 95 % 1.1-9.5). Duration of follow-up was not correlated with priapism (P = 0.774). Forty-seven patients were lost to follow-up. Telephone contact was successful with 14/22 patients with priapism, 50 % of whom had required hospital treatment. Most episodes (86 %) occurred at night, always during sleep. Medical interventions were required in 13 cases as follows: intravenous hydration (n = 4), corpora cavernosa puncture and drainage (n = 7) and corpus cavernosum-corpus spongiosum shunts (n = 2). The prevalence of priapism in children <18 years of age with SCD was 3.6 %, lower than previously reported. Prevalence was higher in HbSS patients, increasing in patients >10 years of age. Most episodes occurred at night and half of the patients required some form of urological procedure. 相似文献
94.
95.
Castelo B. Vilanculo Mrcio J. Da Silva Milena Galdino Teixeira Jesus Avendano Villarreal 《RSC advances》2020,10(13):7691
In this work, we describe a new one-pot synthesis route of valuable linalool oxidation derivatives (i.e., 2-(5-methyl-5-vinyltetrahydrofuran-2-yl propan-2-ol) (1a)), 2,2,6-trimethyl-6-vinyltetrahydro-2H-pyran-3-ol (1b) and diepoxide (1c), using a green oxidant (i.e., hydrogen peroxide) under mild conditions (i.e., room temperature). Lacunar Keggin heteropolyacid salts were the catalysts investigated in this reaction. Among them, Na7PW11O39 was the most active and selective toward oxidation products. All the catalysts were characterized by FT-IR, TG/DSC, BET, XRD analyses and potentiometric titration. The main reaction parameters were assessed. Special attention was dedicated to correlating the composition and properties of the catalysts and their activity.In this work, the catalyst Na7PW11O39 was used in a new one-pot synthesis route to oxidize linalool to valuable derivatives (i.e., vinyltetrahydrofuran, vinyltetrahydropyran, and diepoxide), using a green oxidant (H2O2) at room temperature. 相似文献
96.
Ljubica Djukanović Vidosava Djordjević Višnja Ležaić Rade Čukuranović Ivko Marić Danica Bukvić Jelena Marinković Jovana Čukuranović Milena Rajić Vladisav Stefanović 《International urology and nephrology》2013,45(6):1661-1669
Purpose
Urinary excretion of beta2-microglobulin (beta2-MG), albumin, immunoglobulin G (IgG) and protein was examined in patients with Balkan endemic nephropathy (BEN), glomerulonephritis (GN) and healthy controls.Methods
The proteins were measured in morning urine samples from 74 patients with BEN, 50 healthy persons and 22 patients with GN.Results
In BEN patients, median values for albumin, beta2-MG and protein were above upper normal limits, but median IgG was inside normal range. All patients with GN had microalbuminuria (MAU) and half of them had increased urinary beta2-MG, which was also found in eleven patients with increased urinary IgG. In BEN patients, there were significant negative correlations between eGFR and all measured urinary proteins, the composition of which changed during the course of BEN. In patients with eGFR > 60 ml/min/1.73 m2 isolated beta2-MG was the most frequent finding (10/12 patients), but MAU was present in 4/12 patients. In BEN patients with eGFR between 30 and 59 ml/min/1.73 m2, beta2-MG appeared as often as the combination of beta2-MG and albumin and isolated MAU. Out of 49 BEN patients with eGFR > 30 ml/min/1.73 m2 15 had increased urinary IgG either alone (1) or together with beta2-MG (3) or albumin (3) or beta2-MG and albumin (8). In BEN patients with GFR < 30 ml/min/1.73 m2 only 1/25 had isolated beta2-MG but increased urinary IgG with increased beta2-MG, and albumin was the most frequent.Conclusion
Although low-molecular weight proteinuria was the most frequent urinary finding in BEN patients, MAU was frequently detected in advanced stages of BEN but also in some patients with eGFR > 60 ml/min/1.73 m2. IgG was increasingly found as eGFR decreased. 相似文献97.
98.
Marina V. Svetel Gordana Djuric Ivana Novakovic Valerija Dobricic Elka Stefanova Nikola Kresojevic Aleksandra Tomic Milena Jankovic Igor Petrovic Tatjana Pekmezovic Vladimir S. Kostic 《Acta neurologica Belgica》2013,113(3):243-245
Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson’s disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia. 相似文献
99.
Vidosava Rakocevic Stojanovic Stojan Peric Teodora Paunic Sanja Pavlovic Edita Cvitan Ivana Basta Marina Peric Milena Milicev Dragana Lavrnic 《Journal of clinical neuroscience》2013,20(7):1002-1006
The aim of this study was to analyze survival, causes of death and cardiologic predictors of sudden death in a large cohort of patients with myotonic dystrophy type 1 (DM1). The study was comprised of 171 adult DM1 patients hospitalized at the Neurology Clinic in a 20-year period. Severe electrocardiographic (ECG) abnormality included at least one of the following: rhythm other than sinus, PR interval of ?240 ms, QRS complex duration of 120 ms or more, and second-degree or third-degree atrioventricular (AV) block. Survival data were analyzed by the Kaplan–Meier test, log–rank test and Cox regression analysis. During the mean follow-up period of 9.4 ± 5.4 years, a pacemaker was implanted in 5.8% of DM1 patients and 14% of patients died. The mean age at death was 55.6 ± 12.5 years. The most common causes of death in our cohort were sudden death (41.7%) and respiratory failure (29.2%). The presence of palpitations (hazard ratio [HR] = 4.7, p < 0.05) and increased systolic blood pressure (HR = 9.8, p < 0.05) were significant predictors of sudden death. Among ECG parameters, severe ECG abnormality (HR = 4.7, p < 0.05), right bundle branch block (RBBB; HR = 3.9, p < 0.05) and bifascicular block (HR = 5.8, p < 0.05) were significant predictors of sudden death. 相似文献
100.
Amanda V. Steckert Clarissa M. Comim Francielle Mina Bruna P. Mendonça Diogo Dominguini Gabriela K. Ferreira Milena Carvalho‐Silva Júlia S. Vieira Emilio L. Streck João Quevedo Felipe Dal‐Pizzol 《Synapse (New York, N.Y.)》2013,67(11):786-793
Central nervous system (CNS) dysfunction secondary to sepsis is characterized by long‐term cognitive impairment. It was observed that oxidative damage, energetic metabolism impairment, and cytokine level alteration seen in early times in an animal model of sepsis may persist for up to 10 days and might be associated with cognitive damage. In order to understand these mechanisms, at least in part, we evaluated the effects of sepsis on cytokine levels in the cerebrospinal fluid (CSF), oxidative parameters, and energetic metabolism in the brain of rats at both 30 and 60 days after sepsis induction by cecal ligation and perforation (CLP). To this aim, male Wistar rats underwent CLP with “basic support” or were sham‐operated. Both 30 and 60 days after surgery, the CSF was collected and the animals were killed by decapitation. Then, the prefrontal cortex, hippocampus, striatum, and cortex were collected. Thirty days after surgery, an increase of IL‐6 level in the CSF; an increase in the thiobarbituric acid‐reactive species (TBARS) in prefrontal cortex and a decrease in hippocampus, striatum, and cortex; a decrease of carbonyl protein formation only in prefrontal cortex and an increase in striatum; and an increase in the complex IV activity only in hippocampus were observed. Sixty days after sepsis, an increase of TNF‐α level in the CSF; a decrease of TBARS only in hippocampus; an increase of carbonyl protein formation in striatum; and a decrease of complex I activity in prefrontal cortex, hippocampus, and striatum were observed. These findings may contribute to understanding the role of late cognitive impairment. Further studies may address how these findings interact during sepsis development and contribute to CNS dysfunction. Synapse 67:786–793, 2013. © 2013 Wiley Periodicals, Inc. 相似文献