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71.
Arijit Biswas Vytautas Ivaskevicius Anne Thomas Michael Varvenne Brigitte Brand Hannelore Rott Iris Haussels Heiko Ruehl Ute Scholz Robert Klamroth Johannes Oldenburg 《Annals of hematology》2014,93(10):1665-1676
Mild FXIII deficiency is an under-diagnosed disorder because the carriers of this deficiency are often asymptomatic and reveal a phenotype only under special circumstances like surgery or induced trauma. Mutational reports from this type of deficiency have been rare. In this study, we present the phenotypic and genotypic data of nine patients showing mild FXIII-A deficiency caused by eight novel heterozygous missense mutations (Pro166Leu, Arg171Gln, His342Tyr, Gln415Arg, Leu529Pro, Gln601Lys, Arg703Gln and Arg715Gly) in the F13A1 gene. None of these variants were seen in 200 healthy controls. In silico structural analysis of the local wild-type protein structures (activated and non-activated) from X-ray crystallographic models downloaded from the protein databank identified potential structural/functional effects for the identified mutations. The missense mutations in the core domain are suggested to be directly influencing the catalytic triad. Mutations on other domains might influence other critical factors such as activation peptide cleavage or the barrel domain integrity. In vitro expression and subsequent biochemical studies in the future will be able to confirm the pathophysiological mechanisms proposed for the mutations in this article. 相似文献
72.
Walter Fiedler Joerg Chromik Stefanie Amberg Maxim Kebenko Felicitas Thol Vera Schlipfenbacher Anne Christine Wilke Franziska Modemann Melanie Janning Hubert Serve Arnold Ganser Carsten Bokemeyer Susann Theile Ute Deppermann Anne L. Kranich Michael Heuser 《British journal of haematology》2020,190(3):e169-e173
73.
Serif Senturk Zhan Yao Matthew Camiolo Brendon Stiles Trushar Rathod Alice M. Walsh Alice Nemajerova Matthew J. Lazzara Nasser K. Altorki Adrian Krainer Ute M. Moll Scott W. Lowe Luca Cartegni Raffaella Sordella 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(32):E3287-E3296
74.
75.
Attention‐network specific alterations of structural connectivity in the undamaged white matter in acute neglect 下载免费PDF全文
Roza M. Umarova Marco Reisert Tanja‐Ute Beier Valerij G. Kiselev Stefan Klöppel Christoph P. Kaller Volkmar Glauche Irina Mader Lena Beume Jürgen Hennig Cornelius Weiller 《Human brain mapping》2014,35(9):4678-4692
Visual neglect results from dysfunction within the spatial attention network. The structural connectivity in undamaged brain tissue in neglect has barely been investigated until now. In the present study, we explored the microstructural white matter characteristics of the contralesional hemisphere in relation to neglect severity and recovery in acute stroke patients. We compared age‐matched healthy subjects and three groups of acute stroke patients (9 ± 0.5 days after stroke): (i) patients with nonrecovered neglect (n = 12); (ii) patients with rapid recovery from initial neglect (within the first week post‐stroke, n = 7), (iii) stroke patients without neglect (n = 17). We analyzed the differences between groups in grey and white matter density and fractional anisotropy (FA) and used fiber tracking to identify the affected fibers. Patients with nonrecovered neglect differed from those with rapid recovery by FA‐reduction in the left inferior parietal lobe. Fibers passing through this region connect the left‐hemispheric analogues of the ventral attention system. Compared with healthy subjects, neglect patients with persisting neglect had FA‐reduction in the left superior parietal lobe, optic radiation, and left corpus callosum/cingulum. Fibers passing through these regions connect centers of the left dorsal attention system. FA‐reduction in the identified regions correlated with neglect severity. The study shows for the first time white matter changes within the spatial attention system remote from the lesion and correlating with the extent and persistence of neglect. The data support the concept of neglect as disintegration within the whole attention system and illustrate the dynamics of structural‐functional correlates in acute stroke. Hum Brain Mapp 35:4678–4692, 2014. © 2014 Wiley Periodicals, Inc . 相似文献
76.
Sebastian Kummer Andreas Venghaus Andrea Schlune Barbara Leube Thomas Eggermann Ute Spiekerkoetter 《Pediatric nephrology (Berlin, Germany)》2014,29(1):155-159
Background
Cystinuria is an inherited disorder of a renal tubular amino acid transporter and leads to increased cystine excretion with the risk of urinary stone formation. Phenotypical classification is based on urinary amino acid concentration as type I (silent), type non-I (hyper-excretors), mixed or untyped. Genotypic classification is based on mutations in SLC3A1 (type A) or SLC7A9 (type B).Case-Diagnosis/Treatment
We present six family members with a complex phenotypic profile based on mutations in both genes. The index patient presents a known homozygous mutation (p.T189M) in SLC3A1 and a homozygous mutation (c.225C?>?T) in SLC7A9. Based on a bioinformatics analysis and published findings, we considered p.T189M to be pathogenic and initially classified c.225C?>?T as a silent variant. However, segregation analysis detected homozygosity for p.T189M also in non-affected individuals, whereas homozygous c.225C?>?T segregated with the phenotype. RNA studies confirmed c.225C?>?T to cause aberrant splicing.Conclusions
Based on our findings, we conclude that c.225C?>?T in SLC7A9 determines the clinical phenotype in this family, whereas additional SLC3A1 mutations aggravate the phenotype in heterozygotes for c.225C?>?T in SLC7A9 without resulting in cystinuria in the homozygous state. Our results underline the need for careful biochemical characterization of family members of an index case of cystinuria. Genetic analysis of both cystinuria genes may be necessary due to the synergistic effects of mutations in two genes. 相似文献77.
Urs-Vito Albrecht Ute von Jan Joachim Kuebler Christoph Zoeller Martin Lacher Oliver J Muensterer Max Ettinger Michael Klintschar Lars Hagemeier 《Journal of medical Internet research》2014,16(2)
Background
Google Glass is a promising premarket device that includes an optical head-mounted display. Several proof of concept reports exist, but there is little scientific evidence regarding its use in a medical setting.Objective
The objective of this study was to empirically determine the feasibility of deploying Glass in a forensics setting.Methods
Glass was used in combination with a self-developed app that allowed for hands-free operation during autopsy and postmortem examinations of 4 decedents performed by 2 physicians. A digital single-lens reflex (DSLR) camera was used for image comparison. In addition, 6 forensic examiners (3 male, 3 female; age range 23-48 years, age mean 32.8 years, SD 9.6; mean work experience 6.2 years, SD 8.5) were asked to evaluate 159 images for image quality on a 5-point Likert scale, specifically color discrimination, brightness, sharpness, and their satisfaction with the acquired region of interest. Statistical evaluations were performed to determine how Glass compares with conventionally acquired digital images.Results
All images received good (median 4) and very good ratings (median 5) for all 4 categories. Autopsy images taken by Glass (n=32) received significantly lower ratings than those acquired by DSLR camera (n=17) (region of interest: z=–5.154, P<.001; sharpness: z=–7.898, P<.001; color: z=–4.407, P<.001, brightness: z=–3.187, P=.001). For 110 images of postmortem examinations (Glass: n=54, DSLR camera: n=56), ratings for region of interest (z=–8.390, P<.001) and brightness (z=–540, P=.007) were significantly lower. For interrater reliability, intraclass correlation (ICC) values were good for autopsy (ICC=.723, 95% CI .667-.771, P<.001) and postmortem examination (ICC=.758, 95% CI .727-.787, P<.001). Postmortem examinations performed using Glass took 42.6 seconds longer than those done with the DSLR camera (z=–2.100, P=.04 using Wilcoxon signed rank test). The battery charge of Glass quickly decreased; an average 5.5% (SD 1.85) of its battery capacity was spent per postmortem examination (0.81% per minute or 0.79% per picture).Conclusions
Glass was efficient for acquiring images for documentation in forensic medicine, but the image quality was inferior compared to a DSLR camera. Images taken with Glass received significantly lower ratings for all 4 categories in an autopsy setting and for region of interest and brightness in postmortem examination. The effort necessary for achieving the objectives was higher when using the device compared to the DSLR camera thus extending the postmortem examination duration. Its relative high power consumption and low battery capacity is also a disadvantage. At the current stage of development, Glass may be an adequate tool for education. For deployment in clinical care, issues such as hygiene, data protection, and privacy need to be addressed and are currently limiting chances for professional use. 相似文献78.
Cathryn J. Poulton Rachel Schot Katja Seufert Maarten H. Lequin Andrea Accogli Giuseppe D' Annunzio Laurent Villard Nicole Philip René de Coo Coriene Catsman‐Berrevoets Ute Grasshoff Anja Kattentidt‐Mouravieva Hans Calf Erika de Vreugt‐Gronloh Leontine van Unen Frans W. Verheijen Niels Galjart Deborah J. Morris‐Rosendahl Grazia M. S. Mancini 《American journal of medical genetics. Part A》2014,164(9):2161-2171
79.
Jan Kühnisch Daniela Heitmüller Elisabeth Thiering Inken Brockow Ute Hoffmann Claudia Neumann Roswitha Heinrich‐Weltzien Carl Peter Bauer Andrea von Berg Sybille Koletzko Franklin Garcia‐Godoy Reinhard Hickel Joachim Heinrich 《Journal of public health dentistry》2014,74(1):42-49
Objective: This epidemiological study aimed to assess the proportion and extent of manifestation of enamel hypomineralization, including molar‐incisor‐hypomineralization (MIH), in the permanent and primary dentition. Methods: A total of 693 children enrolled in an ongoing birth cohort study (GINIplus‐10) were examined at their 10‐year follow‐up. Enamel hypomineralization was scored in the primary and permanent dentition on a tooth‐ and surface‐related level based on the criteria of the European Academy of Paediatric Dentistry (EAPD). Children were grouped according to their distribution pattern of enamel hypomineralization: children with a minimum of one hypomineralized tooth in the primary dentition (ht ≥ 1) and permanent dentition (HT ≥ 1); with a minimum of one hypomineralization on at least one first permanent molar (MIH); and with hypomineralization on at least one first permanent molar and permanent incisor (M + IH). For each group, the mean values of hypomineralized primary teeth (ht), permanent teeth (HT), and permanent surfaces (HS) were calculated. Results: The proportion of affected children was 36.5 percent (HT ≥ 1), 14.7 percent (MIH), and 9.4 percent (M + IH); 6.9 percent of the subjects had a minimum of one affected primary tooth (ht ≥ 1). The mean number of hypomineralized permanent teeth and surfaces were 2.3HT/2.9HS (HT ≥ 1), 3.4HT/4.8HS (MIH), and 4.2HT/5.9HS (M + IH). The mean number of hypomineralized primary teeth amounted to 0.1ht in the entire study population. Conclusions: Enamel hypomineralization can be detected frequently in this study sample. Children with M + IH showed the highest number of affected teeth and surfaces followed by those with MIH. 相似文献
80.