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991.
Prenatal Etiologies of West Syndrome 总被引:7,自引:5,他引:2
Shunsuke Ohtahara Yoko Ohtsuka Yasuko Yamatogi Eiji Oka Harumi Yoshinaga Masahiro Sato 《Epilepsia》1993,34(4):716-722
Summary: We investigated the etiology of West syndrome (WS) with special reference to prenatal factors in 180 cases. Prenatal cause was the most frequent diagnosis (77 cases, 42.8%), followed by perinatal (25 cases, 13.9%) and postnatal factors (12 cases, 6.7%); 48 cases (26.7%) were of uncertain etiology; eighteen cases (10.0%) were idiopathic. Of the three forms of age-dependent epileptic encephalopathy, prenatal cause was present in 12 of 15 cases (80.0%) of early-infantile epileptic encephalopathy with suppression-burst, 77 of 180 cases (42.8%) of WS, and 31 of 123 cases (25.2%) of Lennox-Gastaut syndrome (LGS). Prenatal factors of WS included tuberous sclerosis (23), chromosome abnormalities (10), cerebral dysgen- esis (10), porencephaly (7), hydrocephalus (5), Aicardi syndrome (3), Aicardi syndrome associated with chromosome abnormality (1), and other causes (18). Chromosome abnormalities with WS consisted of 6 cases with 21 trisomy and one case each with 18q duplication, t(l;y) translocation, 7q duplication, and partial 2p trisomy. One patient with Aicardi syndrome also had a t(12;21) translocation. No significant difference was observed in the age of onset of WS among the five etiologic groups. The evolution from WS to LGS was not influenced by etiology, except for the idiopathic group. In patients followed for over 3 years, seizure remission occurred in 46.8% (22 of 47 cases) of the prenatal group. This was lower than the other four groups. Intellectual prognosis was also relatively poor in those with prenatal onset. Pyridoxal phosphate (PAL-P) treatment was effective in 9 of 70 (12.9%) prenatal cases and 5 of 18 (27.8%) idiopathic cases. Notably, efficacy rates of 14.3, 14.8%, and 20.0% were observed in those with tuberous sclerosis, brain malformation, and chromosome abnormality, respectively. No significant difference in the effect of synthetic ACTH (Cortrosyn-Z) was observed among the five groups. These findings suggested that WS due to prenatal etiologies and those due to other etiologies are essentially homogeneous in age of onset and clinicoelectrical features, although each has some individual characteristics. We conjecture that WS is one form of an age-specific epileptic reaction to diverse nonspecific exogenous insults. 相似文献
992.
Shengguo You Sakan Maeda Shin-ichi Murao Rei Takahashi Jiro Ishikawa Masaaki Miyazawa Masato Nose Taketoshi Sugiyama 《Cancer science》1989,80(5):444-451
Two culture cell lines L615K and L7212K were established from transplanted murine leukemias L615 and L7212, which had been established and maintained in China for years. Based on morphological, immunological and gene rearrangement analyses, L7212K cells are considered to be of T-cell origin while L615K cells might be immature T-cells. Immunofluorescence assays of viable leukemia cells and fluorescence focus assays of their culture supernate for infectious viruses suggested that recombinant mink cell focus-inducing viruses were significantly involved in both leukemic cell lines. Chromosome analysis of the L615K cells revealed a translocation t(12;17) which probably involved the c- fos locus on chromosome 12, since the DNA rearrangement of c- fos was demonstrated by Southern blot analysis with Hind III, and c- fos has been assigned to this chromosome. Although the expression of this gene was not detected by RNA Northern blot analysis, c- myc was slightly expressed in both L615K and L7212K cells. 相似文献
993.
We report a case of angiomyolipoma (AML) occurring in the renal sinus evaluated by intravenous urography (IVU), renal ultrasound
(US), angiography, and computed tomography (CT). Imaging features of this lesion are identical to AMLs elsewhere, but preoperative
diagnosis was complicated by the unusual occurrence of the tumor in this location in a patient with abdominal pain. Accurate
preoperative diagnosis will allow tumorectomy or conservative management. 相似文献
994.
The present study was designed to investigate the mechanism(s) underlying previously observed birth weight differences found in the first litter of the second (F2) generation bred from caffeine-exposed F1 females. The effect of exposure to caffeine in utero on subsequent sexual receptivity, fertility, gestation length, parturition, nesting activity, maternal behaviour, and reproductive senescence in the F1 mothers, and the viability of the F2 offspring was investigated. This information was collected by breeding control or caffeine exposed females for 8 consecutive litters. It was demonstrated that exposure to caffeine did not affect the sexual receptivity, fertility, gestation length, or maternal behaviour of the F1 females, but parturition was prolonged and the viability of the F2 generation was seriously jeopardised. Many F2 pups were born significantly larger than their control counterparts and a significant proportion of litters (after the first two litters) were wholly stillborn. It was concluded that a changed genetic program, mediated via the F2 fetus, delayed the normal progression of parturition. This, in turn, compromised the F1 mothers and caused increased mortality of their offspring. The severity of the outcome was dose dependent. 相似文献
995.
Dale Newton Lyn Hammond John Wiley Theodore Kushnick 《American journal of medical genetics. Part A》1993,46(5):513-516
We report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p). © 1993 Wiley-Liss, Inc. 相似文献
996.
997.
An insertion (10;11)(p11;q23q24) was found in bone marrow metaphase cells from two children with acute monocytic leukemia (AMoL-M5b). This rearrangement involves a small chromosomal segment of 11q and may be misinterpreted as a deletion of 11q. Insertion (10;11) may represent a new recurring abnormality involving 11q associated with acute leukemia of the M5b type. 相似文献
998.
Septic arthritis of the acromioclavicular (AC) joint is a rare but rapidly destructive etiology of acute shoulder pain. We report a case of septic AC joint in the absence of trauma or intravenous drug use. A diabetic man presented with severe right shoulder pain and was later diagnosed with septic arthritis of the AC joint by magnetic resonance imaging (MRI) and positive blood cultures. Chronic diabetic foot ulcers were the source of the patient’s group B streptococcus bacteremia. 相似文献
999.
Hsu LC Kapali M DeLoia JA Gallion HH 《International journal of cancer. Journal international du cancer》2005,113(5):746-751
Centrosome abnormalities have been found in various cancer types and are thought to be involved in early development of cancer and/or progression. The contribution of centrosome abnormalities to ovarian tumorigenesis has not been previously evaluated. We sought to determine whether centrosome dysfunction occurs in ovarian tumorigenesis, and whether it could be used as an indicator of early neoplastic changes in ovarian surface epithelium (OSE). Primary cultures of normal OSE and ovarian tumors, as well as paraffin-embedded normal ovaries and ovarian tumors of different stages, were used for immunostaining with a gamma-tubulin antibody. Centrosomes were considered abnormal if there were more than 2 per cell, if their sizes were greater than 2-fold of a normal centrosome, and/or if they were abnormal in shape. Centrosomes in normal tissue were uniform in size, whereas centrosomes in ovarian tumors tended to be abnormal in size, number and shape. On average, 4.7% of cells in 5 primary normal OSE cultures had more than 2 centrosomes, whereas 14.1% of primary cells from 5 ovarian tumors displayed centrosome abnormalities (p = 0.008). Centrosome abnormalities were present in 60.9% of stage I (n = 23), 83.3% of stage II (n = 30) and all stage III (n = 10) paraffin-embedded ovarian tumor samples examined, but not in normal tissues. In addition, centrosome abnormalities occurred more frequently in ovarian tumors with higher grade and aggressive serous subtype. This is the first demonstration that centrosome abnormalities occur in ovarian tumors. Centrosome dysfunction may be an early event in ovarian carcinogenesis and involved in ovarian tumor progression. 相似文献
1000.
目的:研究针灸的抗突变作用.方法:以小鼠为实验动物,以环磷酰胺为诱变剂.随机分正常对照组,阳性对照组,针灸预防Ⅰ、Ⅱ组,针灸治疗Ⅰ、Ⅱ组.针灸观察组针刺"足三里",艾灸"关元"穴,检测各组小鼠骨髓细胞染色体畸变率、姊妹染色单体交换率的差异.结果:阳性对照组与正常对照组比较,骨髓细胞染色体畸变率和姊妹染色单体交换率明显升高,而针灸各组与阳性对照组比较明显降低(P<0.01).结论:针灸可以拮抗由环磷酰胺诱导的小鼠骨髓细胞染色体畸变率和姊妹染色单体交换率的升高.针灸具有抗突变作用. 相似文献