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81.
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
82.
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
83.
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
84.
Sonographic patterns of Caroli's disease: report of 5 new cases. 总被引:1,自引:0,他引:1
We have reviewed 5 cases of Caroli's disease, studied from 1982 to 1987, in order to define the validity of its sonographic signs. The "intraluminal portal vein" sign, found in all the cases, is emphasized. This sign may be easily identified and it is never encountered in other diseases. Recessive polycystic kidney disease was present in 3 cases, and congenital hepatic fibrosis was demonstrated in the 2 cases studied by liver biopsy. 相似文献
85.
目的了解重症先天性心脏病手术期间的氧合状态。方法测定了32例心脏复跳后连续应用多巴酚丁胺或米力农情况下体外循环中、停体外循环后30min、手术结束、术后2h、术后16h等时点的心脏指数(CI)、氧供量(DO2)、氧耗量(VO2)和氧摄取率(ERO2)。结果①体外循环中和体外循环结束DO2和VO2有高度正相关性(P<0.01),相关系数分别为0.861,0.811;②体外循环中与体外循环后30min各数据比较CI、DO2、VO2前者明显低于后者(P<0.05或0.01),ERO2无显著性差异;③体外循环结束后各点数据比较,CI能维持在3L/(min·m2)以上,DO2能维持在550ml/(min·m2)以上。VO2能维持在120ml/(min·m2)以上。结论重症先天性心脏病手术期间存在病理性氧供依赖。心脏复跳后应用多巴酚丁胺能改善组织对氧的摄取和利用。体外循环后连续应用多巴酚丁胺或米力农很难进行DO2、VO2、CI的超正常值维护,但CI不小于3L/(min·m2)。手术后16h循环功能尚未完全恢复,仍需继续加强正性肌力药的治疗。 相似文献
86.
In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2.31 ± 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that improved psychosocial adaptation is part of a coping mechanism that helps to maintain a high level of well-being despite impairment. Coping mechanisms should be identified and strengthened in order to help patients cope with their chronic illness. 相似文献
87.
At autopsy, two infants had unsuspected coarctation of the left pulmonary artery (CoLPA), which was produced by an extension
of ductal tissue into the wall of the left pulmonary artery. The first case, a 4-month-old girl, also had a ventricular septal
defect and an anomalous branching pattern of the innominate arterial trunk. Pulmonary arterial hypertensive changes were noted
in the right lung. In contrast, the left lung showed thin-walled pulmonary arteries. The second case, a term female newborn,
had exhibited severe unexplained respiratory distress since birth. Histologic sections of the right lung showed dilated pulmonary
arteries with thinned media, whereas the left lung showed a persistent fetal arterial pattern. It is believed that the peripheral
pulmonary arterial changes are age-dependent and associated with asymmetric blood flow between the right and left pulmonary
arteries. CoLPA is a rare pulmonary artery defect, and early diagnosis of this abnormality is important. 相似文献
88.
P. R. Njølstad H. Reigstad J. Westby A. Espeland 《European journal of pediatrics》1998,157(6):498-501
We report on three siblings with non-immune hydrops fetalis. Congenital pulmonary lymphangiectasia was diagnosed in two of
them. One of these, a girl still alive and suffering from frequent airway infections, has bilateral pleural effusions and
distal congenital lymphoedema.
Conclusion To our knowledge, this is the first report of non-immune hydrops fetalis and congenital pulmonary lymphangiectasia occurring
in siblings.
Received: 4 February 1997 and in revised form: 23 September 1997 / Accepted: 23 September 1997 相似文献
89.
Three cases with anomalous insertion of the superior or inferior vena cava into the right atrium are presented. One case
was a 25-year-old healthy man with anomalous low insertion of the right superior vena cava into the right atrium. The remaining
two cases were infants with complex cardiac anomalies showing anomalous high insertion of the inferior vena cava into the
right atrium. The congenital anomalies of the connection between the superior and the inferior vena cava and the right atrium
are rare. Angiographic and computed tomographic findings of these anomalies were reported. 相似文献
90.
D. Major M. Cadenas L. Fournier S. Leclerc M. Lefebvre R. Cloutier 《Pediatric surgery international》1998,13(8):547-549
The etiology of congenital diaphragmatic hernia (CDH) is not yet known. Studies in the literature from 1941 have reported
that nutritional deficiency of vitamin A during pregnancy could lead to CDH, associated or not with other malformations in
young rats. More recently, possible correlations between expression patterns of cellular retinoid-binding protein and retinoic-acid
receptors and morphologic effects of vitamin A deficiency have been suggested. The purpose of this study was to verify in
human newborns the possible link between vitamin A deficiency and CDH previously observed in experimental animals. Blood samples
were obtained during the first hours after birth from 11 term CDH newborns and 11 healthy controls matched for gestational
age, and also from 7 mothers in each group, for a total of 7 newborn-mother pairs of matched CDH-controls. Plasma retinol
was measured by high-performance liquid chromatography and retinol-binding protein (RBP) by nephelometry. In the 11 matched
CDH-control newborns, plasma retinol and RBP levels in CDH newborns were 50% less than control values (P< 0.0002 and <0.006, respectively); in contrast, retinol levels in CDH mothers were significantly higher than those of control
mothers (P < 0.005). The observation that the plasma concentrations of retinol and RBP are low in infants with CDH relative to controls
may be clinically very relevant and may help to elucidate the mechanism of development of this congenital anomaly. 相似文献