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71.
How often is extracorporeal membrane oxygenation needed in cases of congenital diaphragmatic hernia?
M. C. Soto Beauregard J. Murcia L. Lassaletta S. Salas J. Quero J. A. Tovar 《Pediatric surgery international》1996,11(8):528-531
Some newborns with congenital diaphragmatic hernia (CDH) and severe pulmonary hypertension cannot be saved by conventional treatment and may obtain some benefit from extracorporeal membrane oxygenation (ECMO) as a bridging measure until adequate hematosis is possible. Early prediction of the insufficiency of optimal assistance is still unclear; we reviewed our recent experience with CDH patients in an attempt to evaluate the real need for ECMO in our institution. Between 1987 and 1994, 47 newborns with CDH manifested in the first 24 h were treated with maximal ventilatory assistance (including high-frequency ventilation in 12 cases) and vasoactive drugs prior to surgical repair. In order to summarize the ventilatory and blood-gas parameters, we determined oxygenation index (OI) and ventilatory index (VI) and compared the results in survivors and nonsurvivors. Overall survival was 60% (2 cases of Fryns' syndrome were excluded from analysis). OI was 10.3±5.7 (mean ± SD) for survivors and 46.2 ± 37.8 for nonsurvivors (P < 0.01). VI was 460.9±303 and 1,532±500.6, respectively (P <0.01). Bayesian analysis and receiver operating characteristic curves enabled us to select a threshold value of OI of 20 as the best means of predicting survival in our current conditions (sensitivity: 0.7, specificity: 0.83). The generally accepted figure of 40 had a sensitivity of 1 but a specificity of only 0.44. For VI, the best threshold value was 1,100 (sensitivity: 0.93, specificity: 0.94), whereas the generally used figure of 1,000 had 0.89 and 1, respectively. According to our results, with our current management conditions, approximately 50% of our CDH patients might have obtained some benefit from ECMO. 相似文献
72.
A retrospective analysis of autopsies conducted on perinatal deaths during 7 years period (Oct 1983 to Sept 1990) was done.
There were 650 neonatal deaths and 944 still births during the study period. Autopsy rates among neonates and still births
were 33% and 4.9% respectively. There ware significant findings in 97.2% of neonatal deaths and in all still births. Pulmonary
lesions followed by congenital malformations were the major pathological findings. Infection was observed among smaller number
of babies compared to other Indian studies. Autopsy revealed many internal congenital malformations which were not diagnosed
clinically. Autopsy changed or added to clinical diagnosis in 59.5% of cases. Perinatal autopsy is highly productive in our
set up. 相似文献
73.
Dr. David A. Danford Bruce M. McManus Stephen M. Nielsen Michael G. Levine Howard W. Needelman 《Pediatric cardiology》1993,14(4):242-246
Summary Correlative echocardiographic and pathological findings in a thoracopagus with conjoined hearts are reported. One twin had tricuspid atresia with discordant atrioventricular connections and concordant ventriculoarterial connections. The morphologic right ventricle was hypoplastic and there was a large muscular ventricular septal defect. The other twin had hypoplasia of the mitral valve anulus and left ventricle with double-outlet right ventricle and pulmonary valve atresia. The tricuspid valve was severely insufficient in part because of a large orifice and redundant, elongated leaflets with abnormal chordal attachments. The left ventricles of these two twins shared a perforated common free wall with at least two large defects allowing mixing of the circulations at that level. Not all anatomic details were established conclusively by fetal echocardiography; however, sufficient diagnostic information was obtained to support a decision not to aggressively resuscitate these twins after elective cesarean delivery at 31 weeks' gestation. 相似文献
74.
Kernohan G Trainor B Mollan R Normand C 《The International journal of health planning and management》1991,6(3):229-233
Early treatment for congenital dislocation of the hip is usually simple and inexpensive. However, if the disease is not detected by 6 months of age, treatment is often complicated and expensive. We evaluated the potential cost-saving of screening, by examining the costs in 36 late cases born in 1980 and found an average cost of pounds 6,674 per case for treatment to this date. This amount could justifiably be spent on each case detected in an effective screening programme. 相似文献
75.
J. Ananijevic-Pandey M. Jarebinski B. Kastratovic H. Vlajinac Z. Radojkovic D. Brankovic 《European journal of epidemiology》1992,8(6):871-874
To determine potentially teratogenic influencies in Belgrade, a group of 113 mothers who gave birth to severely malformed infants and a control group of 195 mothers with normal infants were interviewed using a structured questionnaire.Statistically significant differences between the two groups were found in the mother's family history of congenital malformations (P < 0.05) and the mother's diseases during the pregnancy (P < 0.01). Infections in the first trimester were particularly more prevalent in case mothers (OR = 7.70; P < 0.01). Mothers did not differ significantly according to exposure to organic solvents, supportive therapy during the pregnancy, use of oral contraceptives, or other personal habits.Corresponding author. 相似文献
76.
P. F. J. Koppens T. Hoogenboezem D. J. J. Halley C. A. M. Barendse A. J. Oostenbrink H. J. Degenhart 《European journal of pediatrics》1992,151(12):885-892
Two steroid 21-hydroxylase genes are normally present within the human major histocompatibility complex near the genes encoding the fourth component of complement (C4A and C4B). Steroid 21-hydroxylase is encoded by the CYP21 gene, while the highly homologous CYP21P gene is a pseudogene. We studied steroid 21-hydroxylase and complement C4 haplotypes in 33 Dutch patients (29 families) suffering form classical congenital adrenal hyperplasia (CAH) and in their 80 family members, and also in 55 unrelated healthy controls, using 21-hydroxylase and complement C4 cDNA probes. Eleven different haplotypes, defined in terms of gene deletions, gene duplications, conversions of CYP21 to CYP21P, and long and short C4 genes, were found. In 23% of the patients' haplotypes, the CYP21 gene was deleted; in 12%, it was converted into a CYP21P pseudogene. In the remaining 65%, the defect was apparently caused by a mutation not detectable by this method. The most common haplotype (with one CYP21 and one CYP21P gene) was significantly more often observed in patients with simple virilizing CAH than in those with salt-losing CAH. Comparison of the 21-hydroxylase haplotypes found in CAH patients from several countries shows evidence for considerable genetic variation between the groups studied. 相似文献
77.
Sterling H. Blocker E. Stevers Golladay Glen F. Baker 《Pediatric surgery international》1992,7(2):129-130
A leiomyoma of the small bowel in a neonate was found causing luminal occlusion and was associated with malrotation. This association and the lack of intestinal mucosa at the level of the tumor suggest that the growth originated at or near the solid core stage of intestinal development. 相似文献
78.
Cardiac function in congenital hypothyroidism: Impairment and response to L-T4 therapy 总被引:4,自引:0,他引:4
Dr. G. Balducci A. Acquafredda F. Amendola M. Natuzzi N. Laforgia L. Cavallo 《Pediatric cardiology》1991,12(1):28-32
Summary Electrocardiograms (heart rate, QRS voltage, QRS axis in the frontal plane, Q-Tc interval), echocardiograms [left ventricular fractional shortening (LVFS); preejection period (PEP); PEP/left ventricular ejection time (PEP/LVET) ratio; end-diastolic left ventricular free wall and interventricular septum thickness; presence of pericardial effusion], and thyrotropin (TSH), thyroxine (T4), and triiodothyronine (T3) serum levels were evaluated before and 1 week, 1 and 2 months after the start ofl-thyroxine (L-T4) therapy in 11 infants with congenital hypothyroidism (CH), aged 16–59 days when first seen.Before the start of therapy, infants with CH had significantly lower QRS complexes and LVFS and significantly higher values for Q-Tc, PEP, and PEP/LVET than normal infants of the same age. The QTc interval, PEP and PEP/LVET ratio of infants with CH were significantly greater before than 1 week after L-T4 therapy, and LVFS was significantly lower before than 1 month after L-T4 therapy. Four of the infants with CH had small pericardial effusions, which disappeared within the first week of therapy.QRS axis in the frontal plane, Q-Tc interval, and PEP were negatively correlated with logT4 and logT3 serum levels. PEP/LVET ratios were negatively correlated with logT4 serum values. The QRS voltage values were positively correlated with logT4 and logT3 serum values. The frontal-plane QRS axis, Q-Tc interval, and PEP/LVET ratio were positively correlated with logTSH serum levels. The QRS voltages were negatively correlated with TSH serum levels.Our data show that before therapy infants with CH have the same functional, but not morphological, abnormalities as older hypothyroid ones and that one third of them have small pericardial effusions. L-T4 therapy rapidly reverses these changes. 相似文献
79.
Orlandi B. Baldassarre M. Camponozzi F. A. Stanislao C. Di Poccia G. Donatis D. De 《The Italian Journal of Neurological Sciences》1992,13(2):161-164
We report the case of a 22 year old woman with congenital generalized lipodystrophy who presented a left brachiocrural pyramidal hemisyndrome, bilateral cerebellar signs and a left cranial nerve VI deficit. The clinical pattern had a tendency to regress. MRI brainscan, CSF examination and clinical features led to the diagnosis of probable demyelinating syndrome. Published data on CNS involvement in patients with congenital generalized lipodystrophy are few and we have found no cases in which a demyelinating syndrome is associated. In the case we report it is tempting to see the disorder of the lipid metabolism underlying the congenital generalized lipodystrophy as underlying the myelin disorder as well.
Sommario Descriviamo il caso di una paziente di 22 anni, affetta da Lipodistrofia Congenita Generalizzata, che ha presentato una sintomatologia caratterizzata da emisindrome piramidale brachiocrurale sinistra, segni cerebellari bilaterali e deficit del VI nervo cranico di sinistra. Il quadro clinico ha avuto una tendenza alla regressione. La RMN encefalo, l'esame del liquor e la clinica hanno fatto porre diagnosi di probabile sindrome demielinizzante. I dati della letteratura relativi al coinvolgimento del SNC in pazienti con Lipodistrofia Congenita Generalizzata sono scarsi ed in particolare non abbiamo rilevato casi di associazione con sindrome demielinizzante. Nel caso descritto è suggestivo che la turba del metabolismo lipidico alla base della Lipodistrofia Congenita Generalizzata possa essere in rapporto all'interessamento della mielina.相似文献
80.
Summary The association of X-linked mixed deafness with stapes gusher has been recognised for 20 years, and imaging studies by polytomography have shown dilatation of the lateral end of the internal auditory meatus (IAM) in some cases. We have made genetic linkage studies in 7 pedigrees in whom deafness was inherited in an X-linked manner. All patients had a full range of audiometric and vestibular function tests. Thin section high resolution CT in two planes was used to assess the state of the middle and inner ears. We found a distinctive inner ear deformity in some of the deaf males characterised not only by a wide bulbous IAM but more importantly, by deficient or absent bone between the lateral end of the IAM and the basal turn of the cochlea. We believe that this results in a communication between the subarachnoid space in the IAM and the perilymph in the cochlea, leading to perilymphatic hydrops and a gusher if the stapes is disturbed. Moreover, some of the obligate female carriers seem to have a milder form of the same anomaly associated with slight hearing loss. Genetic studies on some of the deaf males with apparently normal inner ear anatomy suggest a different locus on the X chromosome and hence a different pathogenesis for the deafness. 相似文献