全文获取类型
收费全文 | 2412篇 |
免费 | 165篇 |
国内免费 | 14篇 |
专业分类
耳鼻咽喉 | 35篇 |
儿科学 | 82篇 |
妇产科学 | 74篇 |
基础医学 | 383篇 |
口腔科学 | 53篇 |
临床医学 | 211篇 |
内科学 | 475篇 |
皮肤病学 | 106篇 |
神经病学 | 292篇 |
特种医学 | 100篇 |
外国民族医学 | 1篇 |
外科学 | 204篇 |
综合类 | 8篇 |
预防医学 | 148篇 |
眼科学 | 32篇 |
药学 | 159篇 |
中国医学 | 8篇 |
肿瘤学 | 220篇 |
出版年
2023年 | 24篇 |
2022年 | 46篇 |
2021年 | 93篇 |
2020年 | 68篇 |
2019年 | 75篇 |
2018年 | 87篇 |
2017年 | 77篇 |
2016年 | 96篇 |
2015年 | 90篇 |
2014年 | 115篇 |
2013年 | 137篇 |
2012年 | 209篇 |
2011年 | 211篇 |
2010年 | 121篇 |
2009年 | 105篇 |
2008年 | 162篇 |
2007年 | 128篇 |
2006年 | 124篇 |
2005年 | 121篇 |
2004年 | 93篇 |
2003年 | 87篇 |
2002年 | 64篇 |
2001年 | 9篇 |
2000年 | 15篇 |
1999年 | 19篇 |
1998年 | 12篇 |
1997年 | 13篇 |
1996年 | 13篇 |
1995年 | 9篇 |
1994年 | 6篇 |
1993年 | 7篇 |
1992年 | 14篇 |
1991年 | 7篇 |
1990年 | 13篇 |
1989年 | 11篇 |
1988年 | 8篇 |
1987年 | 8篇 |
1986年 | 8篇 |
1985年 | 6篇 |
1984年 | 5篇 |
1983年 | 5篇 |
1981年 | 5篇 |
1980年 | 6篇 |
1978年 | 5篇 |
1977年 | 6篇 |
1976年 | 6篇 |
1974年 | 7篇 |
1973年 | 4篇 |
1971年 | 6篇 |
1968年 | 6篇 |
排序方式: 共有2591条查询结果,搜索用时 770 毫秒
11.
Ricci V Filocamo M Regis S Corsolini F Stroppiano M Di Duca M Gatti R 《American journal of medical genetics. Part A》2003,(1):84-87
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS). To date, more than 200 different mutations have been reported in the IDS gene, located on Xq27.3-q28. Here, we report two new mutations (M488I and G489A) identified in hemizygosity in an Italian Hunter patient. Their "in vitro" expression by COS 7 cells was carried out in order to evaluate their functional consequence on enzyme activity as well as their possible cumulative effect on the malfunctioning of the protein. The results obtained enabled us to confirm the G489A mutation as causative. The M488I mutation, however, could not be unequivocally considered as causing disease because of its residual activity. Although a cumulative effect of the two mutations can be excluded "in vitro," we are cautious about drawing a conclusion with regard to the possible role that the two mutations could have played "in vivo" in modulating the phenotype of the patient. Finally, the knowledge of the molecular defect of the patient has enabled us to identify the carriers, providing reliable genetic counselling to the females of the family. 相似文献
12.
Doriana Misceo Mario Ventura Verena Eder Mariano Rocchi Nicoletta Archidiacono 《Chromosome research》2003,11(4):323-326
A study was made of the organization of the chromosome orthologous to HSA16 in primates using a panel of 8 BAC probes spanning human chromosome 16. The probes were used in FISH experiments on great apes and on representatives of the Old World monkeys, New World monkeys, and lemurs. The domestic cat was used as an outgroup. The results indicate that 16p and 16q were separate chromosomes in a primate ancestor. They fused in a Catarrhini ancestor giving rise to the present day form found in HSA, great apes, and Old World monkeys. Several rearrangements were found in New World monkeys. 相似文献
13.
Tawil A Cox JN Roth AD Briner J Droz JP Remadi S 《Pathology, research and practice》1999,195(2):105-11; discussion 113-4
Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal. 相似文献
14.
Terracciano LM Bernasconi B Ruck P Stallmach T Briner J Sauter G Moch H Vecchione R Pollice L Pettinato G Gürtl B Ratschek M De Krijger R Tornillo L Bruder E 《Human pathology》2003,34(9):864-871
Hepatoblastoma (HB) is the most common liver tumor in childhood and differs in its environmental risk factors and genetic background from hepatocellular carcinoma. HB is associated with inherited conditions such as familial adenomatous polyposis and Beckwith-Wiedemann syndrome, suggesting the importance of genetic abnormalities in the pathogenesis and progression of this disease. It has a very polymorphous morphology. A diverse range of cytogenetic alterations has been reported to date, the most frequent being trisomy 2 and trisomy 20. Thirty-five HB specimens from 31 patients (22 purely epithelial, 4 purely mesenchymal, 9 mixed) were examined by comparative genomic hybridization (CGH), a technique that enables us to screen the entire tumor genome for genetic losses and gains. Our aims were as follows: (1) to characterize chromosome abnormalities that appear in this tumor and (2) to identify possible differences between different histologic subtypes of HB. We found significant gains of genetic material, with very little difference in the number and type of alterations between the different histologic components of HB. The most frequent alterations were gains of Xp (15 cases, 43%) and Xq (21 cases, 60%). This finding was also confirmed by fluorescent in situ hybridization performed on nuclei extracted from 6 specimens. Other common alterations were 1p-, 2q+, 2q-, 4q-, and 4q+. We found no difference between different histologic subtypes, a finding that may be in agreement with the hypothesis of a common clonal origin for the different components. An hitherto-unreported high frequency of X chromosome gains may support the assumption that X-linked genes are involved in the development of this neoplasm. 相似文献
15.
16.
17.
Differences in maintenance of CD8+ and CD4+ bacteria-specific effector-memory T cell populations 总被引:1,自引:0,他引:1
Schiemann M Busch V Linkemann K Huster KM Busch DH 《European journal of immunology》2003,33(10):2875-2885
Our knowledge about the kinetics and dynamics of complex pathogen-specific CD8(+) T cell responses and the in vivo development of CD8(+) memory T cells has increased substantially over the past years; in comparison, relatively little is known about the CD4(+) T cell compartment. We monitored and directly compared the phenotypical changes of pathogen (Listeria monocytogenes)-specific CD8(+) and CD4(+) T cell responses under conditions leading to effective and long-lasting protective immunity. We found that the general kinetics of bacteria-specific CD8(+) and CD4(+) T cells during the effector and post-effector phases are synchronized. However, later during the memory phase, CD8(+) and CD4(+) T cell populations differ substantially. Whereas CD8(+) memory T cell populations with immediate effector function are readily detectable in lymphoid and non-lymphoid tissues and remain remarkably stable in size, antigen-specific CD4(+) effector-memory T cells decline continuously in frequency over time. These findings have important implications for the better understanding of the in vivo development of protective immunity towards intracellular pathogens. 相似文献
18.
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? 总被引:2,自引:0,他引:2
D Ritscher A Schinzel E Boltshauser J Briner U Arbenz P Sigg 《American journal of medical genetics》1987,26(2):481-491
We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene. 相似文献
19.
W Briner 《Experimental and molecular pathology》1989,50(2):205-209
The locomotor activity (determined by open-field test) and analgesic response (measured by tail-flick latency) of rats were evaluated during exposure to novel stimuli and again after exposure to shock. The effects of shock stress on hearts and kidneys were evaluated. This study has found that the more active an animal is when exposed to a novel stimuli the more likely it is to develop renal damage or cardiac changes after shock. Shock stress was found to produce changes in locomotor activity and analgesic state, but shock did not correlate as well with cardiac changes as did the animal's response to novel stimuli. A novel system of evaluating renal damage, which correlated to behavioral changes and organ damage, is described. 相似文献
20.
C C Harris R J Jaszczak K L Greer W H Briner R E Coleman 《Journal of nuclear medicine》1984,25(12):1367-1370
Large differences in dose-calibrator readings are obtained if "high-purity" I-123 is assayed in different containers. Large correction factors are necessary for assaying another isotope of iodine, I-125, in a dose calibrator, because of absorption of the low-energy (28.4-keV, weighted mean) emissions. We found that up to 70% of the dose-calibrator response to I-123 can be due to characteristic x-rays with energies exactly the same as those emitted by I-125, and that dose-calibrator response to I-123 is also strongly affected by the absorption properties of the vial. An appropriate method to define I-123 activity uses a gamma camera with a medium-energy collimator to establish correction factors for dose-calibrator assay of I-123 in different containers. Correction factors for a plastic syringe and a thick-wall glass vial, were determined using this method. Measurement of I-123 activity in a copper absorber will eliminate the response to x-rays, and the gamma camera is useful in establishing the necessary correction factors. 相似文献