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排序方式: 共有7517条查询结果,搜索用时 15 毫秒
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Michael Zech MD Robert Jech MD PhD Sylvia Boesch MD Matej Škorvánek MD PhD Ján Necpál MD Jana Švantnerová MD Matias Wagner MD Ariane Sadr-Nabavi PhD Felix Distelmaier MD Martin Krenn MD PhD Tereza Serranová MD PhD Irena Rektorová MD PhD Petra Havránková MD PhD Alexandra Mosejová MD Iva Příhodová MD PhD Jana Šarláková MD Kristína Kulcsarová MD Olga Ulmanová MD PhD Karel Bechyně MD Miriam Ostrozovičová MD Vladimír Haň MD PhD Joaquim Ribeiro Ventosa MD Theresa Brunet MD Riccardo Berutti PhD Mohammad Shariati MD Ali Shoeibi MD Susanne A. Schneider MD Alice Kuster MD Matthias Baumann MD David Weise MD Friederike Wilbert MD Wibke G. Janzarik MD Matthias Eckenweiler MD Volker Mall MD Bernhard Haslinger MD Steffen Berweck MD Juliane Winkelmann MD Konrad Oexle MD 《Movement disorders》2021,36(8):1959-1964
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Isao Ohsawa Daisuke Honda Yusuke Suzuki Tomoo Fukuda Keisuke Kohga Eishin Morita Shinichi Moriwaki Osamu Ishikawa Yoshihiro Sasaki Masaki Tago Greg Chittick Melanie Cornpropst Sharon C. Murray Sylvia M. Dobo Eniko Nagy Sharon Van Dyke Lacy Reese Jessica M. Best Heather Iocca Phil Collis William P. Sheridan Michihiro Hide 《Allergy》2021,76(6):1789-1799
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Andrea Sánchez Paulina Bustos Paula Honorato Carlos F. Burgos Natalia Barriga Cinthia E. Jannes Katia Sáez Rodrigo Alonso Sylvia Asenjo Claudia Radojkovic 《Journal of clinical lipidology》2021,15(2):366-374.e1
BackgroundFamilial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease.ObjectiveIn this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of LDL-R and ligand interactions with apolipoproteins.Methods27 children and adolescents with suspected FH diagnosis were recruited from a pediatric endocrinology outpatient clinic. Blood samples were collected after 12 h fasting for lipid profile analysis. DNA sequencing was performed for six FH-related genes by Ion Torrent PGM platform and copy number variation by MLPA. For index cases, a familial cascade screening was done restricted to the same mutation found in the index case. In silico analysis were developed to evaluate the binding capacity of LDL-R to apolipoproteins B100 and E.ResultsLipid profile in children and adolescents demonstrated higher LDL-C levels in p.Asp47Asn carriers compared to the wild type genotype. In silico analysis predicted a reduction in the binding capacity of the ligand-binding modules LA1-2 of p.Asp47Asn LDL-R for ApoB100 and ApoE, which was not produced by local structural changes or folding defects but as a consequence of a decreased apparent affinity for both apolipoproteins.ConclusionThe clinical phenotype and the structural effects of p.Asp47Asn LDL-R mutation suggest that this variant associates to FH. 相似文献
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Martin H. Berryer Fadi F. Hamdan Laura L. Klitten Rikke S. Møller Lionel Carmant Jeremy Schwartzentruber Lysanne Patry Sylvia Dobrzeniecka Daniel Rochefort Mathilde Neugnot‐Cerioli Jean‐Claude Lacaille Zhiyv Niu Christine M. Eng Yaping Yang Sylvain Palardy Céline Belhumeur Guy A. Rouleau Niels Tommerup LaDonna Immken Miriam H. Beauchamp Gayle Simpson Patel Jacek Majewski Mark A. Tarnopolsky Klaus Scheffzek Helle Hjalgrim Jacques L. Michaud Graziella Di Cristo 《Human mutation》2013,34(2):385-394
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP‐activating protein, cause nonsyndromic intellectual disability (NSID). All disease‐causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild‐type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity‐dependent phosphorylated extracellular signal‐regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption. 相似文献
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We describe a rare case of ectopic Cushing’s syndrome that recurred 6 years after resection of a thymic neuroendocrine carcinoma. We discuss reasons for the differing clinical presentations, management, hormone profiles, as well as immunopathology. A 41-year-old male developed acute-onset Cushing’s syndrome. Clinical presentation and laboratory results were compatible with ectopic adrenocorticotropin hormone (ACTH) production. Computerized tomography (CT) showed a 3.6 cm thymic tumor which was successfully resected. Plasma ACTH (P-ACTH) normalized the first postoperative day. Histopathology demonstrated a well-differentiated neuroendocrine carcinoma with diffuse positivity for ACTH and focal corticotropin-releasing hormone (CRH) reactivity in a few scattered cells. The patient was in remission for 6 years. He then again presented with acute-onset Cushing’s syndrome. Fluorine-labeled dihydroxyphenylalanine (18F-DOPA) PET/CT showed local uptake in the mediastinum and he underwent repeat resection. However, P-ACTH remained increased (613 ng/l) and 24-h urinary cortisol was 36,720 nmol, suggesting incomplete tumor removal or metastatic spread. Metyrapone treatment was initiated but then withdrawn because the patient spontaneously recovered and cortisol metabolism gradually normalized within 3 weeks. Histopathology demonstrated a recurrent neuroendocrine carcinoma with the same features as the previous lesion but this time CRH was strongly positive in more numerous cells. Normalization of P-ACTH after primary surgery was compatible with ectopic ACTH production. However, the delayed fall in P-ACTH and serum cortisol is compatible with ectopic CRH production and stimulation of pituitary ACTH secretion, which gradually resolved. Although ectopic CRH production is very rare, the unusual dynamics illustrated here should raise the possibility of CRH production by a neuroendocrine tumor. 相似文献
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