全文获取类型
收费全文 | 1882篇 |
免费 | 145篇 |
国内免费 | 9篇 |
专业分类
耳鼻咽喉 | 36篇 |
儿科学 | 32篇 |
妇产科学 | 57篇 |
基础医学 | 490篇 |
口腔科学 | 7篇 |
临床医学 | 207篇 |
内科学 | 347篇 |
皮肤病学 | 21篇 |
神经病学 | 179篇 |
特种医学 | 39篇 |
外科学 | 278篇 |
综合类 | 8篇 |
一般理论 | 3篇 |
预防医学 | 139篇 |
眼科学 | 23篇 |
药学 | 114篇 |
肿瘤学 | 56篇 |
出版年
2023年 | 8篇 |
2022年 | 18篇 |
2021年 | 40篇 |
2020年 | 37篇 |
2019年 | 48篇 |
2018年 | 52篇 |
2017年 | 47篇 |
2016年 | 55篇 |
2015年 | 62篇 |
2014年 | 80篇 |
2013年 | 133篇 |
2012年 | 177篇 |
2011年 | 154篇 |
2010年 | 92篇 |
2009年 | 71篇 |
2008年 | 126篇 |
2007年 | 129篇 |
2006年 | 123篇 |
2005年 | 122篇 |
2004年 | 91篇 |
2003年 | 73篇 |
2002年 | 62篇 |
2001年 | 16篇 |
2000年 | 20篇 |
1999年 | 23篇 |
1998年 | 17篇 |
1997年 | 14篇 |
1996年 | 11篇 |
1995年 | 20篇 |
1994年 | 13篇 |
1993年 | 10篇 |
1992年 | 5篇 |
1991年 | 11篇 |
1990年 | 10篇 |
1989年 | 7篇 |
1988年 | 9篇 |
1987年 | 7篇 |
1986年 | 3篇 |
1985年 | 5篇 |
1983年 | 2篇 |
1982年 | 6篇 |
1981年 | 2篇 |
1980年 | 2篇 |
1979年 | 5篇 |
1978年 | 3篇 |
1977年 | 2篇 |
1974年 | 2篇 |
1973年 | 2篇 |
1969年 | 2篇 |
1933年 | 1篇 |
排序方式: 共有2036条查询结果,搜索用时 31 毫秒
51.
52.
53.
Kornelia Neveling Ilse Feenstra Christian Gilissen Lies H. Hoefsloot Erik‐Jan Kamsteeg Arjen R. Mensenkamp Richard J. T. Rodenburg Helger G. Yntema Liesbeth Spruijt Sascha Vermeer Tuula Rinne Koen L. van Gassen Danielle Bodmer Dorien Lugtenberg Rick de Reuver Wendy Buijsman Ronny C. Derks Nienke Wieskamp Bert van den Heuvel Marjolijn J.L. Ligtenberg Hannie Kremer David A. Koolen Bart P.C. van de Warrenburg Frans P.M. Cremers Carlo L.M. Marcelis Jan A.M. Smeitink Saskia B. Wortmann Wendy A.G. van Zelst‐Stams Joris A. Veltman Han G. Brunner Hans Scheffer Marcel R. Nelen 《Human mutation》2013,34(12):1721-1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. So far it is not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. The current yield of this traditional diagnostic approach depends on a complex of factors that include gene‐specific phenotype traits, and the relative frequency of the involvement of specific genes. To gauge the impact of the paradigm shift that is occurring in molecular diagnostics, we assessed traditional Sanger‐based sequencing (in 2011) and exome sequencing followed by targeted bioinformatics analysis (in 2012) for five different conditions that are highly heterogeneous, and for which our center provides molecular diagnosis. We find that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. For microsatellite‐stable colorectal cancer, this was low under both strategies. Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. 相似文献
54.
55.
Linda Broer Veryan Codd Dale R Nyholt Joris Deelen Massimo Mangino Gonneke Willemsen Eva Albrecht Najaf Amin Marian Beekman Eco J C de Geus Anjali Henders Christopher P Nelson Claire J Steves Margie J Wright Anton J M de Craen Aaron Isaacs Mary Matthews Alireza Moayyeri Grant W Montgomery Ben A Oostra Jacqueline M Vink Tim D Spector P Eline Slagboom Nicholas G Martin Nilesh J Samani Cornelia M van Duijn Dorret I Boomsma 《European journal of human genetics : EJHG》2013,21(10):1163-1168
Telomere length (TL) has been associated with aging and mortality, but individual differences are also influenced by genetic factors, with previous studies reporting heritability estimates ranging from 34 to 82%. Here we investigate the heritability, mode of inheritance and the influence of parental age at birth on TL in six large, independent cohort studies with a total of 19 713 participants. The meta-analysis estimate of TL heritability was 0.70 (95% CI 0.64–0.76) and is based on a pattern of results that is highly similar for twins and other family members. We observed a stronger mother–offspring (r=0.42; P-value=3.60 × 10−61) than father–offspring correlation (r=0.33; P-value=7.01 × 10−5), and a significant positive association with paternal age at offspring birth (β=0.005; P-value=7.01 × 10−5). Interestingly, a significant and quite substantial correlation in TL between spouses (r=0.25; P-value=2.82 × 10−30) was seen, which appeared stronger in older spouse pairs (mean age ≥55 years; r=0.31; P-value=4.27 × 10−23) than in younger pairs (mean age<55 years; r=0.20; P-value=3.24 × 10−10). In summary, we find a high and very consistent heritability estimate for TL, evidence for a maternal inheritance component and a positive association with paternal age. 相似文献
56.
Arielle Blanjean Isabelle Kellens Benoit Misset Jean Joris Jean-Louis Croisier Anne-Françoise Rousseau 《Australian critical care》2021,34(4):311-318
BackgroundMuscle weakness is common in patients who survive a stay in the intensive care unit (ICU). Quadriceps strength (QS) measurement allows evaluation of lower limb performances that are associated with mobility outcomes.ObjectivesThe objective of the study was to characterise the range of QS in ICU survivors (ICUS) during their short-term evolution, by comparing them with surgical patients without critical illness and with healthy participants. The secondary aim was to explore whether physical activity before ICU admission influenced QS during that trajectory.MethodsPatients with length of ICU stay ≥2 days, adults scheduled for elective colorectal surgery, and young healthy volunteers were included. Maximal isometric QS was assessed using a handheld dynamometer and a previously validated standardised protocol. The dominant leg was tested in the supine position. ICUSs were tested in the ICU and 1 month after ICU discharge, while surgical patients were tested before and on the day after surgery, as well as 1 month after discharge. Healthy patients were tested once only. Patients were classified as physically inactive or active before admission from the self-report.ResultsThirty-eight, 32, and 34 participants were included in the ICU, surgical, and healthy groups, respectively. Demographic data were similar in the ICUS and surgical groups. In the ICU, QS was lower in the ICU group than in the surgical and healthy groups (3.01 [1.88–3.48], 3.38 [2.84–4.37], and 5.5 [4.75–6.05] N/kg, respectively). QS did not significantly improve 1 month after ICU discharge, excepted in survivors who were previously physically active (22/38, 56%): the difference between the two time points was ?6.6 [?27.1 to ?1.7]% vs 20.4 [?3.4 to 43.3]%, respectively, in physically inactive and active patients (p = 0.002).ConclusionsPatients who survived an ICU stay were weaker than surgical patients. However, a huge QS heterogeneity was observed among them. Their QS did not improve during the month after ICU discharge. Physically inactive patients should be early identified as at risk of poorer recovery. 相似文献
57.
Jolien Neefs Nicoline W. E. van den Berg Sbastien P. J. Krul S. Matthijs Boekholdt Joris R. de Groot 《Am J Cardiovasc Drugs》2020,20(1):73-80
Mineralocorticoid receptor antagonists (MRAs) reduce the risk of atrial fibrillation (AF) in patients with heart failure (HF) and a reduced ejection fraction. The efficacy of MRAs for AF prevention in patients with HF and a preserved ejection fraction (HFpEF) is unclear. We performed a secondary analysis of a randomized placebo-controlled trial to determine the efficacy of spironolactone in reducing new-onset AF and recurrence of AF in 2733 patients with symptomatic HFpEF. Patients with and without prevalent AF at baseline were included, and those with permanent AF were excluded. Patients were randomized 1:1 to spironolactone or placebo. The risk of new-onset AF or the recurrence of AF was quantified using hazard ratios (HRs) with corresponding 95% confidence intervals (CIs). At baseline, 2228 (64.7%) patients had no history of AF (spironolactone, n = 1111; placebo, n = 1117), whereas 505 (18.4%) patients had prevalent AF (spironolactone, n = 260; placebo, n = 245). During a median follow-up of 3.1 years (interquartile range [IQR] 2.0–4.9), the incidence of new-onset AF was similar in both treatment arms: spironolactone 5.2% (n = 58) versus placebo 4.4% (n = 49); p = 0.41. The risk of new-onset AF was similar in both treatment arms: HR 1.19; 95% CI 0.81–1.74; p = 0.38. AF recurrence was also similar in both treatment arms during a median follow-up of 3.3 years (IQR 1.9–4.7): spironolactone 11.5% (n = 30) versus placebo 11.8% (n = 29); p = 1.00. The risk of recurrence of AF did not differ per treatment arm: HR 0.94; 95% CI 0.57–1.58; p = 0.83. Spironolactone does not reduce the risk of new-onset AF or AF recurrence in patients with HFpEF. This is in contrast to results in cohorts of patients with HF and a reduced ejection fraction. ClinicalTrials.gov identifier no. NCT00094302 (TOPCAT). 相似文献
58.
Regional brain activation during proximal stomach distention in humans: A positron emission tomography study 总被引:7,自引:0,他引:7
Vandenbergh J Dupont P Fischler B Bormans G Persoons P Janssens J Tack J 《Gastroenterology》2005,128(3):564-573
BACKGROUND & AIMS: Hypersensitivity to proximal gastric distention due to abnormal central nervous system processing of visceral stimuli has been suggested as a possible underlying pathophysiologic mechanism in functional dyspepsia. However, the cortical regions activated by distention of the proximal stomach have not been identified. The aim of this study was to investigate regional brain activation during painful and nonpainful proximal gastric distention in humans. METHODS: Positron emission tomography of the brain was performed in 11 healthy volunteers during 4 conditions: (1) no distention and isobaric distention to the individual thresholds for (2) first, (3) marked, and (4) unpleasant sensation. Data were analyzed using statistical parametric mapping. RESULTS: During maximal distention relative to baseline, significant (P corrected <.05) regional brain activation occurred in the left and right gyrus postcentralis (Brodmann area [BA] 43), the left gyrus temporalis superior (BA 38), the right gyrus frontalis inferior (BA 47, orbitofrontal cortex), the right midanterior cingulate gyrus (BA 24), the right anterior insula, and the left cerebellar hemisphere. These areas showed a progressive increase in activation with increasing intensity of the distending stimulus. CONCLUSIONS: We found evidence for a neuronal network processing distention stimuli of the proximal stomach that is overall consistent with the "visceral stimulation network" described in the literature. In addition, we found activation of the orbitofrontal cortex, confirming its role as a convergence zone for processing of food-related stimuli and regulation of hunger, appetite, satiety, and food intake. We found no evidence for a functional neuroanatomic divergence in the processing of noxious and innocuous gastric stimuli. 相似文献
59.
Nicolas Chatron Véronique Haddad Joris Andrieux Julie Désir Odile Boute Anne Dieux Clarisse Baumann Séverine Drunat Marion Gérard Céline Bonnet Bruno Leheup Marianne Till Massimiliano Rossi Elisabeth Flori Yves Alembik Helen Stewart Joanna McParland Laura Bernardini Pia Castelluccio Laura Roos Zeynep Tümer Kerry Fagan Anna Hackett Nicole Bain Arie van Haeringen Claudia Ruivenkamp Brigitte Benzacken Damien Sanlaville Patrick Edery Azzedine Aboura Caroline Schluth‐Bolard 《American journal of medical genetics. Part A》2015,167(5):1008-1017
60.
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
下载免费PDF全文
![点击此处可从《American journal of medical genetics. Part A》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Laïla El Khattabi Sylvie Jaillard Joris Andrieux Laurent Pasquier Laurence Perrin Yline Capri Abdelmadjid Benmansour Annick Toutain Pascale Marcorelles Catherine Vincent‐Delorme Hubert Journel Catherine Henry Claire De Barace Louise Devisme Christèle Dubourg Florence Demurger Josette Lucas Marc‐Antoine Belaud‐Rotureau Jeanne Amiel Valérie Malan Marie‐Christine De Blois Loïc De Pontual Aziza Lebbar Nathalie Le DÛ Dominique P. Germain Jean‐Marc Pinard Eva Pipiras Anne‐Claude Tabet Azzedine Aboura Alain Verloes 《American journal of medical genetics. Part A》2015,167(6):1252-1261