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排序方式: 共有1542条查询结果,搜索用时 93 毫秒
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Emeline Colomba Patricia Pautier Fanny Pommeret Alexandra Leary 《Expert review of anticancer therapy》2019,19(6):437-446
Introduction: The landscape of poly (ADP-ribose) polymerase (PARP) inhibition in ovarian cancer is rapidly evolving and becoming increasingly complex. Ovarian cancer is leading therapeutic innovation by providing the proof of concept for DNA repair as a target. Three different PARP inhibitors have now received approvals in the US and Europe in different indications. Subtle but crucial differences can be found among the licensed indications for each PARP inhibitor in terms of histology, type of BRCA mutation (germline and/or somatic), number of prior lines of chemotherapy and whether the indication is in the treatment or maintenance settings.
Areas covered: We review the latest clinical data regarding the PARP inhibitor rucaparib in ovarian cancer, provide an update on the evolving landscape of PARP inhibition in ovarian cancer, and summarize avenues of ongoing and future research.
Expert opinion: All eligible patients should be offered a PARP inhibitor. SOLO1 trial results demonstrated an unprecedented benefit maintenance with PARP inhibitors in first line. Results from trials evaluating PARP inhibitors as maintenance in first line regardless of BRCA status and from trials evaluating combinatorial strategies are eagerly awaited. 相似文献
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Marta Owczarek‐Lipska Aleksander Jamsheer Anna Sowińska‐Seidler Małgorzata Piotrowicz Lucjusz Jakubowski Fanny Dallèves Erik Riesch John Neidhardt Johannes R. Lemke 《American journal of medical genetics. Part A》2019,179(12):2447-2453
Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, central diabetes insipidus, vertebral anomalies, eye anomalies, and cardiac malformations. Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1‐related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson–Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. Here, we report three patients with Hartsfield syndrome from two unrelated families. Exome sequencing revealed two siblings harboring a novel de novo heterozygous synonymous variant c.1029G>A, p.Ala343Ala causing a cryptic splice donor site in exon 8 of FGFR1 likely due to gonadal mosaicism in one parent. The third case was a sporadic patient with a novel de novo heterozygous missense variant c.1868A>G, p.(Asp623Gly). 相似文献
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Juiien Sigala ;Fanny Jumeau ;Marie-raure Caillet-Boudin ;Nicolas Sergeant ;Caroline Ballot ;jean-Marc Rigot ;Franqois Marcelli ;Meryem Tardivel ;Luc Buee ;Valerie Mitchell 《Asian journal of andrology》2014,16(6):927-928
Dear Editor,
The cytosolic protein Tau is naturally present in human neurons, where it has a pivotal role in controlling microtubule stability. Hyperphosphorylation of Tau (observed during neurodegenerative diseases, such as Alzheimer's disease) impairs the protein's ability to bind microtubules. This results in microtubule disassembly and the formation of Tau aggregates, Tau protein is also widely expressed in peripheral tissues. In the male reproductive system, screening for Tau has focused solely on the rodent and bovine testis. In the present study, we used immunofluorescence and immunoenzymatic techniques (with a Tau-specific antibody) to investigate the presence of Tau protein in human ejaculated sperm and testicular tissue. 相似文献
The cytosolic protein Tau is naturally present in human neurons, where it has a pivotal role in controlling microtubule stability. Hyperphosphorylation of Tau (observed during neurodegenerative diseases, such as Alzheimer's disease) impairs the protein's ability to bind microtubules. This results in microtubule disassembly and the formation of Tau aggregates, Tau protein is also widely expressed in peripheral tissues. In the male reproductive system, screening for Tau has focused solely on the rodent and bovine testis. In the present study, we used immunofluorescence and immunoenzymatic techniques (with a Tau-specific antibody) to investigate the presence of Tau protein in human ejaculated sperm and testicular tissue. 相似文献
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Lydie Boussicault Anne-Sophie Hérard Noel Calingasan Fanny Petit Carole Malgorn Nicolas Merienne Caroline Jan Marie-Claude Gaillard Rodrigo Lerchundi Luis F Barros Carole Escartin Thierry Delzescaux Jean Mariani Philippe Hantraye M Flint Beal Emmanuel Brouillet Céline Véga Gilles Bonvento 《Journal of cerebral blood flow and metabolism》2014,34(9):1500-1510
Huntington''s disease (HD) is caused by cytosine-adenine-guanine (CAG) repeat expansions in the huntingtin (Htt) gene. Although early energy metabolic alterations in HD are likely to contribute to later neurodegenerative processes, the cellular and molecular mechanisms responsible for these metabolic alterations are not well characterized. Using the BACHD mice that express the full-length mutant huntingtin (mHtt) protein with 97 glutamine repeats, we first demonstrated localized in vivo changes in brain glucose use reminiscent of what is observed in premanifest HD carriers. Using biochemical, molecular, and functional analyses on different primary cell culture models from BACHD mice, we observed that mHtt does not directly affect metabolic activity in a cell autonomous manner. However, coculture of neurons with astrocytes from wild-type or BACHD mice identified mutant astrocytes as a source of adverse non-cell autonomous effects on neuron energy metabolism possibly by increasing oxidative stress. These results suggest that astrocyte-to-neuron signaling is involved in early energy metabolic alterations in HD. 相似文献
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Raphaël Cinotti Nicolas Piriou Yoann Launey Thierry Le Tourneau Maxime Lamer Adrien Delater Jean-Noël Trochu Laurent Brisard Karim Lakhal Romain Bourcier Hubert Desal Philippe Seguin Yannick Mallédant Yvonnick Blanloeil Fanny Feuillet Karim Asehnoune Bertrand Rozec 《Intensive care medicine》2016,42(2):173-182
Purpose
Stress cardiomyopathy is a common life-threatening complication after aneurysmal subarachnoid hemorrhage (SAH). We hypothesized that left ventricular (LV) longitudinal strain alterations assessed with speckle tracking could identify early systolic function impairment.Methods
This was an observational single-center prospective pilot controlled study conducted in a neuro-intensive care unit. Forty-six patients with severe SAH with a World Federation of Neurological Surgeons grade (WFNS) ≥III were included. Transthoracic echocardiography (TTE) was performed on day 1, day 3, and day 7 after the patient’s admission. A cardiologist blinded to the patient’s management analyzed the LV global longitudinal strain (GLS). The control group comprised normal subjects matched according to gender and age.Results
On day 1 median (25th–75th percentile) GLS was clearly impaired in SAH patients compared to controls [?16.7 (?18.7/?13.7) % versus ?20 (?22/?19) %, p < 0.0001], whereas LVEF was preserved [65 (59?70) %]. GLS was severely impaired in patients with a WFNS score of V versus III–IV [?15.6 (?16.9/?12.3) % versus ?17.8 (?20.6/?15.8) %, p = 0.008]. Seventeen (37 %) patients had a severe GLS alteration (>?16 %). In these patients, GLS improved from day 1 [?12.4 (?14.8/?10.9) %] to last evaluation [?16.2 (?19/?14.6) %, p = 0.0007] in agreement with the natural evolution of stress cardiomyopathy.Conclusions
On the basis of LV GLS assessment, we demonstrated for the first time that myocardial alteration compatible with a stress cardiomyopathy is detectable in up to 37 % of patients with severe SAH while LVEF is preserved. GLS could be used for sensitive detection of stress cardiomyopathy. This is critical because cardiac impairment remains a major cause of morbidity and mortality after SAH.9.
Buron B 《Journal of gerontological nursing》2010,36(12):38-48
This study evaluated the effects of person-centered life history collages on nursing staff knowledge about individual residents living with dementia and staff perceptions of individualized care practices. Thirty-six nursing staff participants (18 experimental and 18 control) who cared for 5 residents with dementia in two nursing homes were recruited. Intervention staff members were exposed to life history collages for 4 weeks. Pretest and posttest data were analyzed using multivariate analysis of covariance and analysis of covariance. While intervention group members' knowledge of residents' family, jobs/careers, and likes/dislikes/interests improved significantly at posttest, F(3, 26) = 6.80, p < 0.01, and at 3 weeks postintervention, F(3, 23) = 9.85, p < 0.001, perceptions of individualized care/person-centered care practices did not. Potential reasons for this lack of improvement are identified and discussed. Directions for future research are also provided. 相似文献
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