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21.
Mahmud Ahmad Hasan Abbas Sayedul Haque 《American journal of medical genetics. Part A》1993,46(4):369-371
A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele. © 1993 Wiley-Liss, Inc. 相似文献
22.
Stability of Th1 and Th2 populations 总被引:19,自引:0,他引:19
Perez Victor L.; Lederer James A.; Lichtman Andrew H.; Abbas Abul K. 《International immunology》1995,7(5):869-875
Using an in vitro model for the development of IFN-y-producIng(Th1) and IL-4-produclng (Th1) cells from CD4 T lymphocytesexpressing a transgenlc TCR, we show that IL-12 and IL-4 arethe most potent stimuli for the differentiation of naive T cellsto effector populations. When combinations of cytokines arepresent during T cell priming, the effect of IL-4 Is dominant.Furthermore, differentiated Th1 cells can be converted intoIL-4 producers by exposure to IL-4, but the Th2 phenotype Isnot reversible. The stability of Th2 populations may limit theability to regulate Th2-domlnant responses In pathologic situations. 相似文献
23.
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? 总被引:2,自引:1,他引:2
LeGuern E; Gouider R; Ravise N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A 《Human molecular genetics》1996,5(1):103-106
Hereditary neuropathy with liability to pressure palsies (HNPP) is an
autosomal dominant neuropathy, most often associated with a deletion of the
17p11.2 region, which is duplicated in 70% of patients with Charcot-
Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of
paternal origin. A rare case of de novo HNPP of maternal origin was
analysed to determine the underlying mechanism. Affected individuals in the
family carried a deletion corresponding to the CMT1A/HNPP monomer unit
associated with a rearrangement of the CMT1A-REP sequences. Segregation
analysis of 17p11-p12 markers in the family indicated that the deletion was
not generated by unequal crossing over between homologous 17 chromosomes,
as in de novo cases from paternal origin, but rather by an intrachromosomal
rearrangement. Two distinct mechanisms can therefore lead to the same
17p11.2 deletion. This result suggests that intrachromosomal rearrangement
may be specific to maternal transmissions.
相似文献
24.
Mahmoud Hassanein El-Saied A. Aly Yousf A. Abbas Samia M. El-Sigeny 《Macromolecular chemistry and physics.》1993,194(6):1817-1825
To overcome mass transfer limitations which are usually encountered on immobilizing active catalysts, cationic latex particles were used as support for the cobalt(II) complex of disodium N,N′-bis(salicylidene)ethylenediamine-5,5′-disulfonate ( 1 ). The cationic latex 2 was prepared by emulsion copolymerization of chloromethylstyrene (m/p-isomer mixture 60/40) and divinylbenzene (m/p-isomer mixture) followed by treatment with trimethylamine. The latexbound catalyst from 1 and 2 was found to considerably increase the reaction rate of the autoxidation of 2,6-di-tert-butylphenol in water as compared with the conventional polymer-free system. Reaction products were identified as the oxidative coupling product 3,3′,5,5′-tetra-tert-butyldiphenoquinone (3,3′,5,5′-tetra-tert-butyl-4,4′-dioxo-1,1′-bicyclohexa-2,5-dienylidene) and 2,6-di-tert-butyl-1,4-benzoquinone. All reactions showed an induction period before the start of dioxygen consumption. The rate of autoxidation in the three-phase mixtures of water, latex particles, and phenol droplets was not affected significantly by the method of mixing. The reaction rate increased as the concentration of 1 increased. Increasing the partial pressure of dioxygen in the range between 0,25 and 1,0 atm (2,53. 104 – 1,01. 105 Pa) gave a small increase in rate. The colloidal latex catalyst from 1 and 2 showed some loss of activity after successive runs. 相似文献
25.
Hosal SA Apel RL Freeman JL Azadian A Rosen IB LiVolsi VA Asa SL 《Endocrine pathology》1997,8(1):21-28
Molecular analyses of thyroid tumors have documented mutations in the tumor suppressor p53 gene almost exclusively in anaplastic
carcinomas. In contrast, immunohistochemistry has localized p53 in differentiated papillary and follicular thyroid cancers.
To establish the significance of p53 immunolocalization in these lesions, 78 thyroid tumors of follicular derivation were
examined. All tumors were classified by strict criteria and the extent of tumor was determined morphologically. Immunohistochemical
staining for p53 was performed on paraffin sections of formalin-fixed tumor tissue. The results of staining were correlated
with diagnosis, tumor extent and clinical outcome. Immunopositivity for p53 was diffuse and strong in all five anaplastic
carcinomas examined. There was no staining in five of six follicular adenomas. Four of nine follicular carcinomas had some
degree of nuclear staining, but this was focal; all nine tumors were confined to the thyroid at the time of examination. Of
49 papillary carcinomas, 26 were intrathyroidal, and 7 of these were occult; there was no p53 positivity in any occult lesion
and only 5 of the 19 palpable lesions stained. In contrast, among 23 papillary carcinomas with extrathyroidal extension or
metastases, only 9 were negative for p53 immunoreactivity. Five of seven tall cell papillary carcinomas and one of two insular
carcinomas had p53 immunopositivity and this correlated with aggressive behavior. These results support the tumorigenic role
of p53 mutations postulated for anaplastic thyroid carcinomas and indicate that localization of p53 by immunohistochemistry
is a useful prognostic index of clinical behavior in differentiated thyroid carcinomas of follicular cell derivation. 相似文献
26.
27.
28.
Tsilimigras Diamantis I. Dalmacy Djhenne Hyer J. Madison Diaz Adrian Abbas Alizeh Pawlik Timothy M. 《Annals of surgical oncology》2021,28(13):8162-8171
Annals of Surgical Oncology - Racial/ethnic disparities in cancer outcomes may relate to variations in receipt of National Comprehensive Cancer Network (NCCN) guideline compliant... 相似文献
29.
Zeidabadi Somayeh Abbas Jaffar Mangolian Shahrbabaki Parvin Dehghan Mahlagha 《Sexuality and disability》2022,40(3):567-581
Sexuality and Disability - Sexual problems of hemodialysis patients are one of the most significant factors affecting their quality of life and families. On the other hand, an essential part of the... 相似文献
30.
Abbas Agaimy Robert Stoehr Lars Tgel Arndt Hartmann Thomas Cramer 《Head and neck pathology》2021,15(1):361
Porocarcinoma (synonym: malignant eccrine poroma) is a rare aggressive carcinoma type with terminal sweat gland duct differentiation. The squamous variant of porocarcinoma is even less frequent and might be indistinguishable from conventional squamous cell carcinoma (SCC). We herein describe the first case of a carcinoma presenting as a primary parotid gland malignancy in a 24-year-old male without any other primary tumor. Total parotidectomy and neck dissection were performed followed by adjuvant chemoradiation. The patient remained alive and well 10 months after diagnosis. Histology showed keratinizing SCC infiltrating extensively the parotid gland with subtle poroid cell features. Oncogenic HPV infection was excluded by DNA-based testing. NGS analysis using the TruSight RNA fusion panel (Illumina) revealed a novel YAP1-MAML2 gene fusion. This gene fusion was reported recently in a subset of cutaneous porocarcinoma and poroma. This case of poroid SCC (or squamoid porocarcinoma) adds to the differential diagnosis of SCC presenting as parotid gland tumor and highlights the value of molecular testing in cases with unusual presentation.Electronic supplementary materialThe online version of this article (10.1007/s12105-020-01181-9) contains supplementary material, which is available to authorized users. 相似文献