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981.
982.
Jennifer A. Ruskey Lior Greenbaum Léanne Roncière Armaghan Alam Dan Spiegelman Christopher Liong Oren A. Levy Cheryl Waters Stanley Fahn Karen S. Marder Wendy Chung Gilad Yahalom Simon Israeli-Korn Vered Livneh Tsvia Fay-Karmon Roy N. Alcalay Sharon Hassin-Baer Ziv Gan-Or 《European journal of medical genetics》2019,62(1):65-69
Background
Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-associated GBA variants undiscovered.Methods
GBA was fully sequenced using molecular inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls, from Israel and New York. Additional AJ control data (n?=?3044) from the Inflammatory Bowel Disease Exome Portal was used.Results
Full GBA sequencing increased the number of variants discovered by 17.4%, compared to targeted genotyping. An additional 17 PD patients were identified with GBA-associated PD. The p.E326K variant was found in 1.6% of AJ PD patients, making it the second most common PD-associated GBA variant in AJ. GBA variants were found in 18% of PD patients and 7.5% of controls (OR?=?2.7, 95%CI?=?1.9–3.8, p?<?0.0001).Conclusion
Without full sequencing of GBA, or at minimum including p.E326K in the genotyping panel, a significant proportion of variant carriers go undiscovered and may be incorrectly assigned as non-carriers in studies or clinical trials. 相似文献983.
钙调素对微管组装的调节作用 总被引:1,自引:1,他引:1
利用我们建成的钙调素表达可调细胞模型-RC3细胞,对CaM高表达时微管组装行为进行了研究,当用生理剂量的地塞米松处理RC3细胞,细胞内CaM水平提高,而管蛋白浓度没有变化,造成钙调素/管蛋白比值上升,MT解聚,但同时加入CaM拮抗剂三氟拉嗪处理时,则可抑制MT的解聚,C3H10T1/2转化细胞CaM含量的增加是引起MT解聚的主要因素,TFP处理可恢复MT组装。RC3细胞CaM高表达导致MT解聚的实 相似文献
984.
Drell A. Bottorff Sukran Parmaksizoglu Edmond G. Lemire John W. Coffin Helmut Bertrand Frank E. Nargang 《Current genetics》1994,26(4):329-335
The cyt-12-12 mutant of Neurospora crassa is characterized by slow growth and a deficiency of spectrophotometrically-detectable cytochromes aa
3
and c. Using a sib-selection procedure we have isolated the cyt-12
+
allele from a cosmid library of N. crassa genomic DNA. Characterization of the cyt-12
+
allele reveals that it encodes the structural gene for cytochrome c. DNA sequence analysis of the cyt-12-12 allele revealed a mutation in the cytochrome c coding sequence that results in replacement of a glycine residue, which is invariant in the cytochrome c of other species, with an aspartic acid. Genetic analysis confirms that cyt-12-12 is allelic with the previously-characterized cyc-1-1 mutant, which was also shown to affect the single locus encoding cytochrome c in N. crassa. We suggest that the amount of functional cytochrome c present in mitochondria influences the level of cytochrome aa
3
. 相似文献
985.
Population study of T cell receptor V beta gene usage in peripheral blood lymphocytes: differences in ethnic groups. 总被引:2,自引:0,他引:2 下载免费PDF全文
A Geursen M A Skinner L A Townsend L K Perko S J Farmiloe J S Peake I J Simpson J D Fraser P L Tan 《Clinical and experimental immunology》1993,94(1):201-207
The T cell receptor (TCR) V beta repertoire in peripheral blood lymphocytes (PBL) of a large number of healthy individuals was analysed by quantifying V beta-specific mRNA using the method of anchored multiprimer DNA amplification and a reverse dot blot assay. Among 16 V beta gene families examined, particular V beta genes were noted to be unequally expressed in the PBL of 70 healthy donors. The frequently used genes belong to the V beta 4, 5, 6, 8 and 13 (12) families, while V beta 1, 9 and 15 were the least frequently used gene families. This bias in gene usage was observed in all individuals. Marked deviation from the mean percentage usage was noted for some V beta genes in individuals when their PBL were examined serially, but the common pattern of biased usage was not grossly distorted. When the TCR repertoire of different ethnic groups was examined, a lower mean frequency of V beta 3.2 was seen in the repertoire of 19 Caucasians compared with 25 age-matched Samoans (P < 0.003). Conversely, the expression of V beta 5.1 and V beta 5.3 was higher in Caucasians than in 51 age-matched Polynesians (Maoris and Samoans, P < 0.003). Considering the 20% co-efficient of variation in the estimate of V beta gene usage, our data from 70 unrelated individuals suggest that in PBL, individual variations in the TCR repertoire were superimposed upon a common biased usage of V beta genes in the general population. 相似文献
986.
Triggering of respiratory burst by phagocytosis in monocytes of patients with systemic lupus erythematosus. 总被引:1,自引:0,他引:1 下载免费PDF全文
E Gyimesi M Kavai E Kiss I Csip G Szücs G Szegedi 《Clinical and experimental immunology》1993,94(1):140-144
The triggering of the respiratory burst by phagocytosis via different receptors in monocytes of patients with systemic lupus erythematosus (SLE) was investigated. The superoxide anion synthesis was assayed by reduction of ferricytochrome C that was inhibited by superoxide dismutase. The mononuclear cell suspensions were triggered by IgG-coated latex, C3 complement fragment-coated and uncoated yeast (Saccharomyces cerevisiae). Superoxide generation induced by phagocytosis via Fc gamma R was decreased in monocytes of patients with SLE. On the other hand, MoAbs against Fc gamma RI, Fc gamma RII and especially CR3 could also induce superoxide anion synthesis. At the same time, superoxide generation induced by anti-CR3 could be inhibited with C3-coated yeast. 相似文献
987.
Liu Yang Tao Li Claudia Wiese Lars Lannfelt Pierre Sokoloff Chong T. Xu Zhong Zeng Jean-Charles Schwartz Xiehe Liu Hans W. Moises 《American journal of medical genetics. Part A》1993,48(2):83-86
The D3 dopamine receptor gene is an important candidate gene for schizophrenia, since (because of its almost exclusive expression in the limbic system) it combines the dopamine receptor hypothesis with the limbic system hypothesis of schizophrenia. A BalI restriction fragment length polymorphism of the D3 dopamine receptor gene has been typed in 107 schizophrenic patients and 98 normal controls from Sichuan (China). With regard to alleles or genotypes, no significant differences were obtained between controls from Europe and China, between patients and controls, and between patient subgroups and controls. These results indicate a lack of association between schizophrenia and the D3 dopamine receptor gene in our sample. Our findings are at variance with reports of a significant excess of homozygosity at the D3 dopamine receptor gene in schizophrenic patients from Wales (United Kingdom) and Alsace (France). In conclusion, further studies will be needed with larger samples of patients from Wales and Alsace as well as with samples of different racial groups to prove or disprove the initial positive association between schizophrenia and genotypes of the D3 dopamine receptor gene. © 1993 Wiley-Liss, Inc. 相似文献
988.
V. Sundaresan P. Ganly P. Hasleton N. M. Bleehen P. Rabbitts 《The Journal of pathology》1993,169(1):43-52
Loss of genetic material, corresponding to chromosomal deletions, has been detected in a wide range of tumours and may indicate the position of a tumour suppressor gene. In order to identify the position of such a gene more precisely, many tumour samples must be studied until a minimum consensus deletion is characterized. This process is particularly necessary for lung tumours in which the deletion in chromosome 3, seen with such high frequencies in all histological subtypes, is almost always large. We have recently described the use of the polymerase chain reaction (PCR) for restriction fragment length polymorphism (RFLP) analysis of DNA isolated from small bronchial biopsies of lung tumours. In this study we adapted this technique to allow genotyping of DNA isolated from paraffin wax-embedded material (PWEM) microdissected from glass slides. We have investigated 12 lung tumours at polymorphic loci on chromosome 3 and showed allelic loss in all samples. In adapting PCR–RFLP analysis for DNA isolated from PWEM, we have concentrated on those approaches which might be adaptable to routine clinical practice. Somatic genetic changes are now being identified in many tumour types, and this information is expected to be of diagnostic and prognostic significance. 相似文献
989.
白细胞介素3基因疗法和白细胞介素6基因疗法的联合造血调控作用 总被引:2,自引:0,他引:2
研究了成纤维细胞介导的IL-3基因疗法,IL-6基因疗法以两者联合后对造血系统的影响。结果发现,单用IL-基因疗法的小鼠白细胞总数,中性粒细胞,骨髓CFU-GM,CFU-MK等显著上升,但血小板上升程度经,单用IL-6基因疗法的小鼠血小板,中性粒细胞,骨髓CFU-GM,CFU-MK上晚为显著。 相似文献
990.
Coindre JM Hostein I Maire G Derré J Guillou L Leroux A Ghnassia JP Collin F Pedeutour F Aurias A 《The Journal of pathology》2004,203(3):822-830
Inflammatory malignant fibrous histiocytoma (inflammatory MFH) is a very rare tumour that occurs most often in the retroperitoneum. So far, it has been considered to be a special subtype of MFH. As it is now widely accepted that most retroperitoneal pleomorphic MFHs are dedifferentiated liposarcomas, the present study compared histological features, genomic profile (CGH analysis), and MDM2 and CDK4 status (immunohistochemistry, FISH, and quantitative PCR) in inflammatory MFHs from 12 patients and dedifferentiated liposarcomas that had an inflammatory MFH component from eight patients. Metaphase cytogenetic and FISH analyses were also performed on one inflammatory MFH. Histological review showed areas of well-differentiated liposarcoma in nine inflammatory MFHs. CGH analysis showed 12q13-15 amplification or gain in six of seven inflammatory MFHs and in seven of seven dedifferentiated liposarcomas. Immunohistochemistry showed positivity of tumour cells for MDM2 in every tumour in both groups and for CDK4 in ten and seven inflammatory MFHs and dedifferentiated liposarcomas, respectively. Metaphase cytogenetic and FISH analysis performed on one inflammatory MFH showed the presence of a supernumerary large marker chromosome and ring chromosome with high-level amplification of both MDM2 and CDK4 genes. FISH analysis on paraffin wax-embedded sections showed amplifications of MDM2 and CDK4 in seven of seven inflammatory MFHs and in seven of seven dedifferentiated liposarcomas. Quantitative PCR showed amplification of MDM2 in six and of CDK4 in seven of nine inflammatory MFHs. In conclusion, this study strongly suggests that most so-called inflammatory MFHs are dedifferentiated liposarcomas. 相似文献