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91.
A case of lymphoid blast crisis of Ph1-positive CGL is described in which the blast cells had an immature T cell phenotype, clonal rearrangement and expression of the T cell receptor beta gene, and a rearrangement of the breakpoint cluster region (bcr) on chromosome 22. This case therefore provides definite evidence for transformation involving a common myeloid-T lineage progenitor, penetrance of the Ph1 molecular alteration into the T cell lineage, and clonal selection in blast crisis at the level of a committed T lineage precursor. 相似文献
92.
Sturk A; Schaap MC; Prins A; ten Cate JW; Govaerts LC; Wanders RJ; Heymans HS; Schutgens RB 《Blood》1987,70(2):460-463
Ca2+-ionophore A23187-induced synthesis of the alkoxyether lipid platelet activating factor (PAF) by leukocytes from Zellweger patients was undetectable in two patients studied at 3 and 4 weeks of age, reduced in a third patient studied at 2 months of age, and in the low normal range in four patients studied between 4 months and 5 years of age. We have previously reported that plasmalogen-type phosphatidylethanolamine (PE) levels of erythrocytes are reduced in Zellweger patients up to 20 weeks of age, but normal in older patients. These levels were reduced in the three patients with abnormal PAF synthesis, and normal in the other four patients. The results suggest a close relationship between the age of the patients at sampling, and both the A23187-induced capacity of leukocytes to synthesize PAF and the plasmalogen PE levels in their erythrocytes. 相似文献
93.
Establishment of two new myeloma cell lines from bilateral pleural effusions: evidence for sequential in vivo clonal change 总被引:3,自引:0,他引:3
Durie BG; Vela E; Baum V; Leibovitz A; Payne CM; Richter LC; Grogan TM; Trent JM 《Blood》1985,66(3):548-555
Two new human myeloma cell lines have been established from a 36-year- old woman with refractory IgG kappa multiple myeloma in whom bilateral malignant pleural effusions developed. The malignant plasma cells from each effusion were set up in a liquid culture using an L-15 medium containing catalase, glutathione, selenous acid, ascorbic acid, insulin, transferrin, additional glutamine hydrocortisone, and 2- mercaptoethanol and designated as M-3 medium. Two IgG kappa cell lines, LB -831 and LB-832, were established and proved to be Epstein-Barr virus negative using the internal repeat sequence DNA probe. Characteristic plasma cell morphology was evident by light and electron microscopy. Immunotyping revealed an IgG kappa , B1+, B2-, Ia (HLA- DR)+, CALLA+ phenotype for each cell line as well as for the original pleural fluid and bone marrow myeloma cells. The supernatants also contained IgG kappa, beta 2 microglobulin, and large amounts of osteoclast-activating factor (indicating bone-resorbing activity). Cytogenetic analysis of the LB-831 cell line revealed a nearly triploid highly abnormal karyotype with numerous clonal chromosomal abnormalities involving chromosomes 1, 3, 5, 7, 13, and 15; several structurally abnormal marker chromosomes; and a putative homogeneously staining region on chromosome 7p at band p22. Analysis of the LB-832 cell line revealed several additional clonal abnormalities. These additional cytogenetic changes suggest that in vivo sequential clonal evolution occurred in this patient. Therefore, two new but related cell lines have been established, which should prove useful for further biological studies. 相似文献
94.
Compartment Surgery in Treatment Strategies for Retroperitoneal Sarcomas: A Single-center Experience
Carlos Eduardo Rodrigues Santos Mauro Monteiro Correia Luiz Claudio Santos Thuler Bruno Rodrigues Rosa Antonio Accetta Jurandir de Almeida Dias Eduardo Linhares Riello de Mello 《World journal of surgery》2010,34(11):2773-2781
Background
Retroperitoneal sarcomas (RPS) are rare tumors and radical surgery is still the only curative treatment. We aim to estimate postoperative morbidity and mortality and identify significant prognostic factors for survival of patients with RPS and then evaluate the effect of en bloc resection on survival.Methods
This was a retrospective follow-up study of 91 patients with RPS who underwent surgery at the Section of Abdominopelvic Surgery of the National Cancer Institute-Brazil (INCA) between June 1992 and January 2008. Overall and 2-, 5-, and 10-year disease-free survival rates were calculated and univariate and Cox multivariate analyses were performed.Results
The most common complaints were abdominal pain and mass. Resection was possible in 83.5% and curative resection in 55.3%. Six patients died within the postoperative period (mortality = 6.6%) and 28 had complications (30.8%). Leiomyosarcomas and liposarcomas predominated, as well as G3. The median tumor diameter was 20.5 cm. There were 124 organs resected in association, with only 42 proven invaded. The 5-year overall survival and disease-free survival rates were 32.0 and 36.8%, respectively. Cell differentiation, curative or palliative resection, blood transfusion, and re-resection were significant variables. Compartment surgery had no impact on survival, but it increased the duration of surgery, the need for blood transfusion, and overall morbidity.Conclusions
This study suggests that early diagnosis and curative resection of retroperitoneal sarcomas can improve long-term survival. Adjacent organs with evidence of direct invasion must be removed en bloc; others should be spared. 相似文献95.
Alves-Leon SV Papais-Alvarenga R Magalhães M Alvarenga M Thuler LC Fernández y Fernandez O 《Acta neurologica Scandinavica》2007,115(5):306-311
OBJECTIVE: The present study focused on human leukocyte antigen (HLA) DQB1, DQA1 and DRB1 allelic variation according to ethnicity and analyzed whether susceptibility to multiple sclerosis (MS) depends on population characteristics. METHODS: Eighty-eight healthy African-Brazilians and 92 healthy white Brazilians living in Rio de Janeiro City were selected and the HLA phenotype between the two ethnic groups was compared with 44 MS patients of African descent and 40 patients of European descent. HLA class II genes were performed using polymerase chain reaction (PCR) and PCR-sequence-specific primer amplification. RESULTS: DQA1*0201-0301 alleles were associated with the white Brazilian population (P < 0.001). The DRB*1501 allele was present in White Brazilians (P=0.003), and DRB1*03-1503 in African-Brazilians. The DRB1*1501 allele confers an ethnicity-dependent MS susceptibility in White patients and the DQB1*0602 allele confers genetic susceptibility regardless of ethnicity. CONCLUSION: Heterogeneous phenotypes occur in both Brazilian ethnic groups. Taking into account that the response to immunomodulator drugs for MS treatment changes according to the DRB1*1501 allele and African-American MS patients presented poor response to the interferons, phenotype heterogeneity of HLA loci found in this study could influence therapeutic decisions in the Brazilian MS population. 相似文献
96.
97.
RL HENRY LC HETTIARACHCHI P COLLEY C COLLLINS EV O'LOUGHLIN DM COOPER 《Journal of paediatrics and child health》1996,32(5):416-418
Objective : To determine the genotype of patients attending the cystic fibrosis clinic at John Hunter Hospital, Newcastle, Australia.
Methodology : Seventy-five of the 76 patients attending the clinic over a 6 month period had blood collected for genetic analysis of 17 of the cystic fibrosis (CF) gene mutations.
Results : Sixty-one per cent of the patients were homozygous for the ΔF508 mutation and all except one child had at least one ΔF508 mutation.
Discussion : Nearly 80% of the CF genes were the ΔF508 mutation. This prevalence suggests that the obligatory false negative rate of a newborn screening programme for CF based on a combination of immunoreactive trypsin and the ΔF508 gene may be as low as 4-5%. 相似文献
Methodology : Seventy-five of the 76 patients attending the clinic over a 6 month period had blood collected for genetic analysis of 17 of the cystic fibrosis (CF) gene mutations.
Results : Sixty-one per cent of the patients were homozygous for the ΔF508 mutation and all except one child had at least one ΔF508 mutation.
Discussion : Nearly 80% of the CF genes were the ΔF508 mutation. This prevalence suggests that the obligatory false negative rate of a newborn screening programme for CF based on a combination of immunoreactive trypsin and the ΔF508 gene may be as low as 4-5%. 相似文献
98.
99.
100.
Roessler E; Belloni E; Gaudenz K; Vargas F; Scherer SW; Tsui LC; Muenke M 《Human molecular genetics》1997,6(11):1847-1853
Holoprosencephaly (HPE) is the most common brain anomaly in humans,
involving abnormal formation and septation of the developing central
nervous system. Among the heterogeneous causes of HPE, mutations in the
Sonic Hedgehog (SHH) gene have been shown to result in an autosomal
dominant form of the disorder. Here we describe a total of five different
mutations in the processing domain encoded by exon 3 of SHH in familial and
sporadic HPE. This is the first instance in humans where SHH mutations in
the domain responsible for autocatalytic cleavage and cholesterol
modification of the N-terminal signaling domain of the protein have been
observed.
相似文献