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91.
JENNY DOWNS AMI BEBBINGTON PETER JACOBY ANNE‐MARIE WILLIAMS SOUMYA GHOSH WALTER E KAUFMANN HELEN LEONARD 《Developmental medicine and child neurology》2010,52(9):817-823
Aim We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. Method Video assessment in naturalistic settings was supplemented by parent‐reported data in a cross‐sectional study of 144 females with a mean age of 14 years 10 months (SD 7y 10mo; range 2y–31y 10mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies. Results Approximately two‐thirds of participants demonstrated purposeful hand function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest hand function on multivariate analysis with C‐terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04–0.95), whereas those with the p.R133C or p.R294X mutation had better hand function. Participants aged 19 years or older had lower hand function than those aged less than 8 years (OR 0.36; 95% CI 0.14–0.92). Factors that were associated with better hand function were lower Kerr scores for a 1‐point increase in score (OR 0.77; 95% CI 0.69–0.86), higher WeeFIM scores for a 1‐point increase in score (OR 1.08; 95% CI 1.04–1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02–73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. Interpretation Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy. 相似文献
92.
Specificity of vaginal pulse amplitude and vaginal blood volume in reaction to visual sexual stimuli was investigated by comparing responses to sexual, anxiety-inducing, sexually threatening, and neutral film excerpts. Subjective sexual arousal, body sensations, emotional experience, skin conductance, and heart rate were monitored along with the genital measures. Self-report data confirmed the generation of affective states as intended. Results demonstrated response specificity of vaginal vasocongestion to sexual stimuli. In terms of both convergent and divergent validity, vaginal pulse amplitude was the superior genital measure. Skin conductance discriminated among stimuli only to a small degree, whereas heart rate failed to discriminate among stimuli altogether. 相似文献
93.
MICHAEL J. KALLOK WALTER H. OLSON STEVEN J. MARCACCINI CAROLYN K. ALMQUIST 《Pacing and clinical electrophysiology : PACE》1986,9(6):1361-1366
We have shown that sequential pulse defibrillation threshold voltage and total delivered energy do not change with maturation of the electrode tissue interface for up to 12 weeks after implantation of two different electrode configurations. This result is important to predict the future performance of an implantable defibrillator that is tested only at implant. 相似文献
94.
BRUNHILDE KOLP FRITZ ANDREAE WALTER M.F. FABIAN HEINZ STERK 《Chemical biology & drug design》1996,48(5):443-451
The solution structures of a series of conformationally restricted pentapeptides with a sequence H-Tyr1-Cys2-Gly3 Phe4-Cys5-OH cyclic (2-5) disulfide, where the cysteines possess either the D or L configuration, were examined by a combined approach including NMR measurements as well as MD calculations. It turned out that at least one low energy conformer of H-Tyr1-Cys2-Gly3-Phe4-Cys5-OH cyclic (2-5) disulfide (DCDCE), as well as one conformer out of the group of calculated conformers for H-Tyr1-D-Cys2-Gly3-Phe4-Cys5-OH cyclic (2-5) disulfide (DCLCE), satisfies the NMR data obtained in this study, whereas for the derivative H-Tyrl-Cys2-Gly3-Phe4-Cys5-OH cyclic (2-5) disulfide, which contains solely L-Cys (LCLCE), there is no single structure compatible with the NMR data. © Munksgaard 1996. 相似文献
95.
summary Seventy-five patients suffering from myofascial pain, headaches and anterior disc displacement were assessed clinically and with a kinesiograph. Twenty-eight asymptomatic dental staff served as a control group. The prevalence of awareness of bruxism was significantly greater in our TMD patients than the controls. Bruxism patients recorded a higher prevalence of incisor dentine wear suggestive of a forward mandible posture. Class II, Division 1 malocclusions formed a significantly higher proportion of the TMD patient group than the controls. Kinesiographic recordings showed that the vertical and lateral components of movement from postural position to intercuspal were significantly greater in the patient group. 相似文献
96.
LESCH OTTO M.; WALTER HENRIETTE; ANTAL JOZSEF; HEGGLI DAG-ERIK; KOVACZ ATTILA; LEITNER ADELHEID; NEUMEISTER ALEXANDER; STUMPF IMRE; SUNDREHAGEN ERLING; KASPER SIEGFRIED 《Alcohol and alcoholism (Oxford, Oxfordshire)》1996,31(3):265-271
This paper reports the results of a 3-week drinking experimentin 51 healthy male subjects, examining the value of %CDT (carbohydrate-deficienttransferring in the context of different levels of alcohol intake.All healthy persons were urine-tested drug-free and underwentdaily breath alcohol tests for the 7 days preceding, and duringthe whole 3 weeks of, the experiment. Subjects were dividedinto five groups, consuming different amounts of alcohol dailyover a 3-h period in the presence of the investigators. Thefive groups consisted of 10, 9, 10, 16 and 6 subjects respectivelyand consumed a daily dose of ethanol of 20, 40, 60, 80 and 80g respectively for 3 weeks. No significant changes in %CDT weredetected in most subjects, even in the 80 g alcohol-consuminggroups. The results suggest that CDT is not sensitive for thedetection of short-term heavy drinking by healthy subjects. 相似文献
97.
HAJIME TAMAI YUKIHIKO TAKAICHI TETSUYA MORITA GEN KOMAKI SUNAO MATSUBAYASHI KANJI KUMA ROBERT M. WALTER JR. LINDY F. KUMAGAI SHIGENOBU NAGATAKI 《Clinical endocrinology》1989,30(5):525-530
We reviewed the records of approximately 7000 Japanese patients whose hyperthyroidism was treated with methimazole (MMI) alone. Four patients (Group I) developed agranulocytosis during a second course of MMI therapy and eight patients (Group II) during an initial course. Six patients (three in each group) received less than 30 mg MMI daily. Agranulocytosis occurred after more than 2 months of therapy (12 weeks-1 year) in five patients. Seven patients were less than 40 years of age. One patient displayed a gradual protracted development of agranulocytosis. These results indicate that agranulocytosis after MMI may occur irrespective of dose, age, duration of treatment, and with a second exposure. 相似文献
98.
The 2'-valerate ester of 6-methoxypurine arabinoside (170U88),a nucleoside analog with anti-varicella zoster virus (VZV) activity,was given to monkeys and rats. In subchronic preclinical toxicitystudies, dosing was by gavage to monkeys (distilled water vehicle)and rats (0.5% methylcellulose vehicle) for 90 days. Groupsof 5 male and 5 female monkeys (Macaca fascicularis) were given170U88 at 0, 25, 50, or 100 mg/kg/day. The daily dose was givenin two equal portions with 6 hr between doses. Monkeys in thehigh-dose group lost weight. Food consumption was decreasedfor mid- and high-dose monkeys and for low-dose female monkeys.Slightly decreased values for erythrocyte and leukocyte countsat the mid- and high dose were fully reversed during an 8-weekrecovery period. Two high-dose male monkeys and a middose femalemonkey developed signs of central nervous system toxicity andwere necropsied before dosing was complete. These signs werefirst observed in the fifth week of dosing and included bodytremors, incoordination, reduced activity, sleepiness, stupor,and lack of eye tracking. Axonal lesions were observed in histologicsections of sciatic nerve in monkeys at all dose levels. Neitherthe signs of central nervous system toxicity nor the axonallesions reversed during the 8- week recovery period. Groupsof 14 male and 14 female CD rats (Sprague-Dawley derived) weregiven single daily doses of 170U88 at 0, 150, 300, or 600 mg/kg.Body weights were decreased at all dose levels and food consumptionwas decreased for mid- and high-dose rats. Small increases invalues for erythrocyte count, hemoglobin, and packed cell volumeand small decreases in values for glucose, serum protein, andserum albumin were limited to high-dose rats and reversed duringa 4- week recovery period. High-dose rats also had reversibleliver lesions consisting of necrosis of individual hepatocytes,megalocytosis, occasional mitotic figures, and biliary stasis.Clinical and morphologic indications of central nervous systemtoxicity in the rats consisted of altered exploratory behaviorat the high dose and groups of small vacuoles in cerebellarwhite matter at all dose levels. Cerebellar vacuolation wasobserved in rats examined at the end of the exposure periodand also in rats examined after the 4-week postdose recoveryperiod. Signs interpreted as peripheral nervous system toxicitywere limited to rats in the high-dose group and consisted ofhindquarter weakness, slow righting and placing reflexes, andataxia. Again, these findings did not reverse during the recoveryperiod. Thus, signs of both central and peripheral nervous systemtoxicity were observed in both monkeys and rats. These neurotoxiceffects resulted in the decision to stop further developmentof 170U88. 相似文献
99.
J WESTERMANN S WALTER Y. NAGAHORI C HEERWAGEN M MIYASAKA & R PABST 《Scandinavian journal of immunology》1996,43(3):297-303
Although several distinct adhesion pathways are now well characterized, it is not clear whether analysis of adhesion molecule expression on leucocytes is sufficient to predict their interaction with endothelium in vivo. Therefore, in the present study this question was addressed by investigating the interaction between blood leucocyte subsets and high endothelial venules (HEV). The expression of different types of adhesion molecule (CD44, α4-integrins, LFA-1, ICAM-1, CD2 and L-selectin) on lymphocytes, NK cells, monocytes and granulocytes of rat blood was determined by flow cytometry. In the same animals the numbers of blood leucocyte subsets present in the HEV of axillary lymph nodes and Peyer's patches were analysed using immunohistology. In the HEV of both axillary lymph nodes and of Peyer's patches lymphocytes (> 10.000 per mm2 ), as well as small numbers of NK cells and monocytes (< 500 per mm2 ), were found. In contrast, granulocytes were not detected here. Lymphocytes, NK cells, monocytes and granulocytes each expressed CD44, α4-integrins, LFA-1, ICAM-1, CD2 and L-selectin in a pattern characteristic to cell type, but this did not correlate with the different ability of the leucocyte subsets to interact with the two types of HEV. In conclusion, determining the expression of CD44, α4-integrins, LFA-1, ICAM-1, CD2 and L-selectin on blood leucocytes alone is not sufficient to predict leucocyte/endothelium interaction in vivo 相似文献
100.
KRASAVAGE WALTER J.; BLACKER ANN M.; ENGLISH J. CAROLINE; MURPHY SUSAN J. 《Toxicological sciences》1992,18(3):370-375
To determine the potential developmental toxicity of hydroquinone(HQ), pregnant rats (COBS-CD-BR) were given 0, 30, 100, or 300mg/kg HQ by gavage on the 6th through the 15th days of gestation.Maternal effects included a slight, but significant (p 0.05),reduction in body weight gain and feed consumption for the 300mg/kg HQ dams. Reproductive indices, i.e., pregnancy rate, numbersof corpora lutea, implantation sites, viable fetuses, and earlyand late resorptions, fetal sex ratio, pre-and postimplantationlosses, and gravid uterine weights, were not affected by treatmentwith HQ. A slightly reduced (p 0.05) mean fetal body weightseen at the 300 mg/kg dose level was associated with the slightlyreduced body weight gain seen for the dams at this dose level.Gross external, internal soft tissue, and skeletal examinationsof the fetuses revealed no HQ-related malformations. The incidencesof gross external variations (small hematomas) and internalsoft tissue variations (dilated renal pelvis, hydronephrosis,and hydroureter) in the HQ-treated litters were not statisticallydifferent from the control incidences. Skeletal variations (delayedossification of membranous skull bones, hyoid bone, thoraciccentra 13, sacral arches 3 and 4, and bilobed thoraciccentra 913) were seen with similar frequency in the controland HQ-treated groups. A statistically significant increasein the incidence of total common vertebral variations seen atthe 300 mg/kg HQ dose level was not considered toxicologicallysignificant. The incidences of total skeletal variations werenot statistically different between the control and the HQ-treatedgroups. It is concluded that HQ was not selectively toxic tothe developing rat conceptus and, thus, appears not to havethe properties of a developmental toxicant. The no-observable-effectlevel for both maternal and developmental toxicity was 100 mg/kg,whereas 300 mg/kg was the no-observable-adverse-effect level. 相似文献