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31.
Alexandre R. Espírito Santo John D. Bartlett Carolyn W. Gibson Yong Li Ashok B. Kulkarni Sérgio R. P. Line 《Connective tissue research》2013,54(1):39-52
Dental enamel is the most mineralized tissue of vertebrate organisms. Enamel biosynthesis is initiated by the secretion, processing, and self-assembly of a complex mixture of proteins. The formation of an ordered enamel organic extracellular matrix (ECM) seems be a crucial step for the proper formation of mineral phase. Polarizing microscopy demonstrates that the ordered supramolecular structure of the secretory-stage enamel organic ECM is strongly birefringent. In the present work we analyzed the birefringence of secretory-stage enamel organic ECM in amelogenin (Amelx)- and enamelysin (Mmp20)-deficient mice. Female Amelx+/? animals showed significant reduction in optical retardation values when compared with the Amelx+/+ subgroup (p = 0.0029). The secretory-stage enamel organic ECM of the Amelx?/? subgroup did not exhibit birefringence. The secretory-stage enamel organic ECM of Mmp20?/? mice showed a significant decrease in optical retardation as compared with Mmp20+/+ and Mmp20+/? mice (p = 0.0000). Mmp20+/? and Mmp20+/+ mice exhibited similar birefringence (p = 1.0000). The results presented here support growing evidence for the idea that the birefringence of secretory-stage enamel organic ECM is influenced by the ordered supramolecular organization of its components. 相似文献
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Line Lykke Andersen Nanna M?rk Line S. Reinert Emil Kofod-Olsen Ryo Narita Sofie E. J?rgensen Kristian A. Skipper Klara H?ning Hans Henrik Gad Lars ?stergaard Torben F. ?rntoft Veit Hornung S?ren R. Paludan Jacob Giehm Mikkelsen Takashi Fujita Mette Christiansen Rune Hartmann Trine H. Mogensen 《The Journal of experimental medicine》2015,212(9):1371-1379
34.
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients 下载免费PDF全文
Myriam Oufadem Géraldine Goudefroye Lucile Boutaud Jean‐Luc Alessandri Neus Baena Geneviève Baujat Clarisse Baumann Odile Boute‐Benejean Roseline Caumes Charles Decaestecker Dominique Gaillard Alice Goldenberg Marie Gonzales Muriel Holder‐Espinasse Marie‐Line Jacquemont Didier Lacombe Sylvie Manouvrier‐Hanu Sandrine Marlin Michèle Mathieu‐Dramard Gilles Morin Laurent Pasquier Florence Petit Marlène Rio Robert Smigiel Christel Thauvin‐Robinet Alexandre Vasiljevic Alain Verloes Valérie Malan Arnold Munnich Loïc de Pontual Michel Vekemans Stanislas Lyonnet Tania Attié‐Bitach Jeanne Amiel 《Human mutation》2014,35(4):478-485
Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss‐of‐function (LoF) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 LoF. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle. 相似文献
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Gro G. Pløen Line Nederby Per Guldberg Maria Hansen Lene H. Ebbesen Uffe Birk Jensen Peter Hokland Anni Aggerholm 《British journal of haematology》2014,167(4):478-486
Mutations in DNMT3A, the gene encoding DNA methyltransferase 3 alpha, have been identified as molecular drivers in acute myeloid leukaemia (AML) with possible implications for minimal residual disease monitoring and prognosis. To further explore the utility of DNMT3A mutations as biomarkers for AML, we developed assays for sensitive detection of recurrent mutations affecting residue R882. Analysis of DNA from 298 diagnostic AML samples revealed DNMT3A mutations in 45 cases (15%), which coincided with mutations in NPM1, FLT3 and IDH1. DNMT3A mutations were stable in 12 of 13 patients presenting with relapse or secondary myelodysplastic syndrome, but were also present in remission samples from 14 patients (at allele frequencies of <1–50%) up to 8 years after initial AML diagnosis, despite the loss of all other molecular AML markers. The mutant DNMT3A allele burden was not related to the clinical course of disease. Cell sorting demonstrated the presence of DNMT3A mutations in leukaemic blasts, but also at lower allele frequencies in T and B‐cells from the same patients. Our data are consistent with the recent finding of preleukaemic stem cells in AML, which are resistant to chemotherapy. The persistence of DNMT3A mutations during remission may have important implications for the management of AML. 相似文献
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38.
Henn S de Carvalho RV Ogliari FA de Souza AP Line SR da Silva AF Demarco FF Etges A Piva E 《Clinical oral investigations》2012,16(2):531-536
This study evaluated the effect of zinc methacrylate (ZM) on the inhibition of matrix metalloproteinase 2 (MMP-2) and the
ultimate tensile strength (UTS) of an experimental polymer. Enzymes secreted from mouse gingival tissues were analyzed by
gelatin zymography in buffers containing 5 mM CaCl2 (Tris–CaCl2) in 50 mM Tris–HCl buffer with various concentrations of ZM (0.5, 1, 2, 4, 8, and 16 mM). The matrix metalloproteinases present
in the conditioned media were characterized by immunoprecipitation. The polymer UTS evaluation was performed in eight groups
with various concentrations of ZM (0, 0.5, 1, 2.5, 5, 10, 20, and 30 wt.%), in a mechanical testing machine. MMP-2 (62 kDa)
was detected in the zymographic assays and inhibited by ZM in all tested concentrations. UTS data were submitted to one-way
ANOVA and Tukey's test (α = 0.05), and no significant differences were observed among groups, except in the polymer containing 30% ZM, presenting a
significantly lower value when compared with the control group (p < 0.05). The results suggest that ZM inhibits MMP-2 expression in all concentrations tested, while small concentrations did
not affect the ultimate tensile strength of the polymer. Zinc methacrylate is a metalloproteinase inhibitor that can be copolymerized
with other methacrylate monomers. Yet, the addition of ZM did not affect the resin bond strength. Thus, in vivo tests should
be performed to evaluate the performance of this material. 相似文献
39.
Katrina Tatton‐Brown Anne Murray Sandra Hanks Jenny Douglas Ruth Armstrong Siddharth Banka Lynne M. Bird Carol L. Clericuzio Valerie Cormier‐Daire Tom Cushing Frances Flinter Marie‐Line Jacquemont Shelagh Joss Esther Kinning Sally Ann Lynch Alex Magee Vivienne McConnell Ana Medeira Keiichi Ozono Michael Patton Julia Rankin Debbie Shears Marleen Simon Miranda Splitt Volker Strenger Kyra Stuurman Clare Taylor Hannah Titheradge Lionel Van Maldergem I. Karen Temple Trevor Cole Sheila Seal Childhood Overgrowth Consortium Nazneen Rahman 《American journal of medical genetics. Part A》2013,161(12):2972-2980
40.
Denise Carleto Andia Ariadne Letra Renato Corrêa Viana Casarin Marcio Zaffalon Casati Sergio Roberto Peres Line Ana Paula de Souza 《Archives of oral biology》2013,58(2):211-217
ObjectivesInterleukin (IL)-8 is an important chemokine for regulation of the inflammatory response. A single nucleotide polymorphism (SNP) reference sequence (rs) 4073 in the IL8 gene has been shown to regulate IL-8 levels after stimulation with lipopolysaccharide. This study investigates the transmission pattern of the IL8 rs4073 risk allele A and its association with susceptibility to aggressive periodontitis (AgP) in families and in a case–control cohort of unrelated individuals from a Brazilian population.DesignGenotyping was performed by standard polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP) in 13 nuclear families and 184 unrelated subjects. Statistical analysis was performed using the transmission disequilibrium test (TDT) for the family dataset and Chi-square test and multivariate logistic regression modelling for the case–control dataset.ResultsTDT analyses did not detect evidence of over transmission of IL8 rs4073 alleles in affected and unaffected family members (allele T: 52%; allele A: 48%; p = 0.2252). How expected, analyses of cases and unrelated controls showed a significant and inverse association of age with AgP; however, a lack of association between genotypes, ethnic groups and generalized AgP was observed.ConclusionsThe SNP (rs4073) was not associated with AgP in unrelated individuals and there is no evidence of over transmission of the alleles in families with AgP, from Brazilian individuals. 相似文献