全文获取类型
收费全文 | 781篇 |
免费 | 63篇 |
国内免费 | 15篇 |
专业分类
耳鼻咽喉 | 5篇 |
儿科学 | 48篇 |
妇产科学 | 11篇 |
基础医学 | 104篇 |
口腔科学 | 33篇 |
临床医学 | 85篇 |
内科学 | 203篇 |
皮肤病学 | 34篇 |
神经病学 | 19篇 |
特种医学 | 130篇 |
外科学 | 46篇 |
综合类 | 37篇 |
预防医学 | 43篇 |
眼科学 | 5篇 |
药学 | 38篇 |
中国医学 | 2篇 |
肿瘤学 | 16篇 |
出版年
2023年 | 4篇 |
2021年 | 12篇 |
2020年 | 13篇 |
2019年 | 17篇 |
2018年 | 11篇 |
2017年 | 17篇 |
2016年 | 18篇 |
2015年 | 23篇 |
2014年 | 31篇 |
2013年 | 36篇 |
2012年 | 16篇 |
2011年 | 13篇 |
2010年 | 47篇 |
2009年 | 37篇 |
2008年 | 19篇 |
2007年 | 32篇 |
2006年 | 13篇 |
2005年 | 16篇 |
2004年 | 14篇 |
2003年 | 14篇 |
2002年 | 15篇 |
2001年 | 7篇 |
2000年 | 16篇 |
1999年 | 11篇 |
1998年 | 44篇 |
1997年 | 38篇 |
1996年 | 36篇 |
1995年 | 24篇 |
1994年 | 33篇 |
1993年 | 28篇 |
1992年 | 7篇 |
1991年 | 10篇 |
1990年 | 7篇 |
1989年 | 20篇 |
1988年 | 16篇 |
1987年 | 15篇 |
1986年 | 10篇 |
1985年 | 8篇 |
1984年 | 5篇 |
1983年 | 10篇 |
1982年 | 13篇 |
1981年 | 9篇 |
1980年 | 14篇 |
1978年 | 6篇 |
1977年 | 13篇 |
1976年 | 7篇 |
1975年 | 6篇 |
1974年 | 3篇 |
1970年 | 5篇 |
1956年 | 3篇 |
排序方式: 共有859条查询结果,搜索用时 15 毫秒
1.
2.
GP SCHWAB AL BLUM E BODNER B DALLEMAGNE K GLASER H KOOP F PACE W RÖSCH JR SIEWERT G WETSCHER 《Journal of gastroenterology and hepatology》1997,12(12):785-789
Gastroesophageal reflux disease (GERD) is the most common disease of the upper gastrointestinal tract. With the introduction of proton pump inhibitors medical treatment of GERD has been significantly improved. However, the development of laparoscopic antireflux surgery resulted in an increasing interest of surgeons in this disease. An interactive meeting was organized in order to develop an agreement between gastoenterologists and surgeons regarding therapeutic decisions and this is the main topic of this paper. 相似文献
3.
4.
5.
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) 总被引:10,自引:1,他引:10
Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J 《Human molecular genetics》1996,5(4):509-512
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with
micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced
thoracic cavity. In the most common subtype (TD1), femurs are curved, while
in TD2, straight femurs are associated with cloverleaf skull. Mutations in
the fibroblast growth factor receptor 3 (FGFR3) gene were identified in
both subtypes. While TD2 was accounted for by a single recurrent mutation
in the tyrosine kinase 2 domain, TD1 resulted from either stop codon
mutations or missense mutations in the extracellular domain of the gene.
Here, we report the identification of FGFR3 mutations in 25/26 TD cases.
Two novel missense mutations (Y373C and G370C) were detected in 8/26 and
1/26 TD1 cases respectively. Both mutations created cysteine residues in
the juxta extramembrane domain of the receptor. Sixteen cases carried the
previously reported R248C (9/26 cases), S249C (2/26 cases) or stop codon
FGFR3 mutations (5/26 cases). Our results suggest that TD1 is a genetically
homogeneous condition and give additional support to the view that newly
created cysteine residues in the extracellular domain of the protein play a
key role in the severity of the disease.
相似文献
6.
Comparison of C(18)-carboxypropylbetaine and standard N-acetyl-L-cysteine-NaOH processing of respiratory specimens for increasing tuberculosis smear sensitivity in Brazil
下载免费PDF全文
![点击此处可从《Journal of clinical microbiology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Scott CP Dos Anjos Filho L De Queiroz Mello FC Thornton CG Bishai WR Fonseca LS Kritski AL Chaisson RE Manabe YC 《Journal of clinical microbiology》2002,40(9):3219-3222
Techniques to improve the sensitivity of smear microscopy would facilitate early tuberculosis (TB) diagnosis and disease control, especially in low-income countries where the positive predictive value is high. C(18)-carboxypropylbetaine (CB-18) is a zwitterionic detergent that helps to compensate for the innate buoyancy of mycobacteria, potentially enhancing recovery by centrifugation. Previous data suggest that CB-18 may increase the sensitivity of smear, culture, and molecular amplification diagnostic testing. The goal of the present study was to evaluate if the sensitivity of the smear technique using light microscopy could be improved by treating respiratory samples with CB-18. In the first phase, respiratory specimens were collected consecutively from patients with suspected pulmonary tuberculosis in a tertiary-care hospital in Rio de Janeiro, Brazil (236 specimens were analyzed). After protocol modifications, another 120 respiratory specimens were evaluated. The standard technique was N-acetyl-L-cysteine with sodium hydroxide (NALC-NaOH) treatment, smear concentration with centrifugation, and Ziehl-Neelsen staining. Culture on L?wenstein-Jensen slants was performed on all specimens for use as the "gold standard." No specimens from patients undergoing active TB treatment were included. The initial protocol for CB-18 processing resulted in a sensitivity of 59.6% and specificity of 96.8% compared to standard processing with a sensitivity of 66.0% and specificity of 96.8%. Using the modified protocol, the sensitivity of CB-18 increased to 71.4% with a specificity of 97.0% versus standard processing with a sensitivity of 61.9% and a specificity of 99.0%. The diagnostic yield of acid-fast bacillus smear with CB-18 in the absence of fluorescence microscopy and PCR compared to standard processing with NALC-NaOH was not significantly different, although the power to detect a difference by the modified assay was low. 相似文献
7.
8.
9.
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1 总被引:10,自引:0,他引:10
Lemmens I; Van de Ven WJ; Kas K; Zhang CX; Giraud S; Wautot V; Buisson N; De Witte K; Salandre J; Lenoir G; Pugeat M; Calender A; Parente F; Quincey D; Gaudray P; De Wit MJ; Lips CJ; Hoppener JW; Khodaei S; Grant AL; Weber G; Kytola S; Teh BT; Farnebo F; Thakker RV 《Human molecular genetics》1997,6(7):1177-1183
10.
Yang GC; Croaker D; Zhang AL; Manglick P; Cartmill T; Cass D 《Human molecular genetics》1998,7(6):1047-1052
Lethal white foal syndrome (LWFS) is a congenital anomaly of horses
characterized by a white coat colour and aganglionosis of the bowel, which
is similar to Hirschsprung disease (HSCR). We decided to investigate
possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as
recent studies in mutant rodents and some patients have demonstrated EDNRB
defects. First, we identified a full-length cDNA for horse EDNRB . This
cDNA fragment contained a 1329 bp open reading frame which encoded 443
amino acid residues. The predicted amino acid sequence was 89, 91 and 85%
identical to human, bovine and mouse as well as rat EDNRB respectively, but
only 55% identical to the human, bovine and rat endothelin A receptor
(EDNRA). Secondly, sequence analysis, together with allele-specific PCR and
the amplification- created restriction site (ACRS) technique, revealed a
dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in
the predicted first transmembrane domain of the EDNRB protein. This was
associated with LWFS when homozygous and with the overo phenotype when
heterozygous.
相似文献