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41.
Antibodies to basement membrane protein nidogen in Chagas' disease and American cutaneous leishmaniasis 总被引:2,自引:1,他引:2 下载免费PDF全文
J L Avila M Rojas G Velazquez-Avila H von der Mark R Timpl 《Journal of clinical microbiology》1986,24(5):775-778
About 50 to 70% of sera from patients with American cutaneous leishmaniasis and chronic Chagas' disease possessed antibodies which reacted in enzyme and radioimmunoassays with nidogen obtained from a tumor basement membrane. The antibodies were of the immunoglobulin M and G classes in acute American cutaneous leishmaniasis but mainly of the immunoglobulin G class in chronic Chagas' disease. Similar antibodies could not be detected in patients suffering from a variety of other infectious or inflammatory diseases when compared with healthy control groups. Inhibition and immunoadsorption studies indicated a close relationship of epitopes recognized by patients' antibodies on nidogen and on another basement membrane protein, laminin. Since rabbit antisera to both proteins do not cross-react, a special nature of the epitopes involved in the reaction with patient sera is suggested. Similar epitopes may exist on various forms of Leishmania or Trypanosoma protozoa. 相似文献
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RA Kumar 《Clinical genetics》2008,74(4):343-344
De novo mutations in the gene encoding STXBP1 (MUNC18‐1) cause early infantile epileptic encephalopathySaitsu et al. (2008)Nature Genetics 40: 782–788 相似文献
44.
Predominance of null mutations in ataxia-telangiectasia 总被引:15,自引:4,他引:15
Gilad S; Khosravi R; Shkedy D; Uziel T; Ziv Y; Savitsky K; Rotman G; Smith S; Chessa L; Jorgensen TJ; Harnik R; Frydman M; Sanal O; Portnoi S; Goldwicz Z; Jaspers NG; Gatti RA; Lenoir G; Lavin MF; Tatsumi K; Wegner RD; Shiloh Y; Bar-Shira A 《Human molecular genetics》1996,5(4):433-439
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving
cerebellar degeneration, immunodeficiency, chromosomal instability,
radiosensitivity and cancer predisposition. The responsible gene, ATM, was
recently identified by positional cloning and found to encode a putative
350 kDa protein with a Pl 3-kinase-like domain, presumably involved in
mediating cell cycle arrest in response to radiation-induced DNA damage.
The nature and location of A-T mutations should provide insight into the
function of the ATM protein and the molecular basis of this pleiotropic
disease. Of 44 A-T mutations identified by us to date, 39 (89%) are
expected to inactivate the ATM protein by truncating it, by abolishing
correct initiation or termination of translation, or by deleting large
segments. Additional mutations are four smaller in-frame deletions and
insertions, and one substitution of a highly conserved amino acid at the Pl
3-kinase domain. The emerging profile of mutations causing A-T is thus
dominated by those expected to completely inactivate the ATM protein. ATM
mutations with milder effects may result in phenotypes related, but not
identical, to A-T.
相似文献
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Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene 总被引:4,自引:0,他引:4
47.
Idia B. Thurston Jessica Curley Sherecce Fields Dimitra Kamboukos Ariz Rojas Vicky Phares 《Journal of community psychology》2008,36(4):411-420
Mental health services are underutilized in our society by both adults and children. This finding presents a potential problem for researchers conducting community‐based research. Previous studies have demonstrated that community‐based researchers frequently do not screen participants for the presence of psychopathology nor do they ascertain whether therapeutic services are currently utilized. The present study explored the prevalence of psychopathology and treatment involvement in a sample of families recruited from the community. Results indicated that a fifth of the participants in this community‐based sample met diagnostic criteria for a psychiatric disorder or were in treatment for psychological difficulties at the time of recruitment for this study. Furthermore, mothers, fathers, and adolescents who met the criteria according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM‐IV; American Psychiatric Association, 1994 ) for a psychological disorder had higher symptomatology than those who did not meet criteria. Methodological suggestions are provided. © 2008 Wiley Periodicals, Inc. 相似文献
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da Cunha JP Nakayasu ES Elias MC Pimenta DC Téllez-Iñón MT Rojas F Muñoz MJ Manuel M Almeida IC Schenkman S 《Molecular and biochemical parasitology》2005,140(1):75-86
Histone H1 of most eukaryotes is phosphorylated during the cell cycle progression and seems to play a role in the regulation of chromatin structure, affecting replication and chromosome condensation. In trypanosomatids, histone H1 lacks the globular domain and is shorter when compared with the histone of other eukaryotes. We have previously shown that in Trypanosoma cruzi, the agent of Chagas' disease, histone H1 is phosphorylated and this increases its dissociation from chromatin. Here, we demonstrate using mass spectrometry analysis that T. cruzi histone H1 is only phosphorylated at the serine 12 in the sequence SPKK, a typical cyclin-dependent kinase site. We also found a correlation between the phosphorylation state of histone H1 and the cell cycle. Hydroxyurea and lactacystin, which, respectively, arrest parasites at the G1/S and G2/M stages of the cell cycle, increased the level of histone H1 phosphorylation. Cyclin-dependent kinase-related enzymes TzCRK3, and less intensely the TzCRK1 were able to phosphorylate histone H1 in vitro. Histone H1 dephosphorylation was prevented by treating the parasites with okadaic acid but not with calyculin A. These findings suggest that T. cruzi histone H1 phosphorylation is promoted by cyclin dependent kinases, present during S through G2 phase of the cell cycle, and its dephosphorylation is promoted by specific phosphatases. 相似文献
50.