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排序方式: 共有378条查询结果,搜索用时 15 毫秒
1.
Bielik Peter Bonczek Ondřej Krejčí Přemysl Zeman Tomáš Izakovičová-Hollá Lydie Šoukalová Jana Vaněk Jiří Vojtěšek Bořivoj Lochman Jan Balcar Vladimir J. Šerý Omar 《Clinical oral investigations》2022,26(12):7045-7055
Clinical Oral Investigations - The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of... 相似文献
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Wassim Daher Lydie Pelinski Sylvie Klieber Freddy Sadoun Viviane Meunier Martine Bourrié Christophe Biot Fran?ois Guillou Gérard Fabre Jacques Brocard Laurent Fraisse Jean-Pierre Maffrand Jamal Khalife Daniel Dive 《Drug metabolism and disposition》2006,34(4):667-682
Ferroquine (SSR97193) has been shown to be a promising antimalarial, both on laboratory clones and on field isolates. So far, no resistance was documented in Plasmodium falciparum. In the present work, the metabolic pathway of ferroquine, based on experiments using animal and human hepatic models, is proposed. Ferroquine is metabolized mainly via an oxidative pathway into the major metabolite mono-N-demethyl ferroquine and then into di-N,N-demethyl ferroquine. Some other minor metabolic pathways were also identified. Cytochrome P450 isoforms 2C9, 2C19, and 3A4 and, possibly in some patients, isoform 2D6, are mainly involved in ferroquine oxidation. The metabolites were synthesized and tested against the 3D7 (chloroquine-sensitive) and W2 (chloroquine-resistant) P. falciparum strains. According to the results, the activity of the two main metabolites decreased compared with that of ferroquine; however, the activity of the mono-N-demethyl derivative is significantly higher than that of chloroquine on both strains, and the di-N-demethyl derivative remains more active than chloroquine on the chloroquine-resistant strain. These results further support the potential use of ferroquine against human malaria. 相似文献
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Clémence Jacquin Emilie Landais Céline Poirsier Alexandra Afenjar Ahmad Akhavi Nathalie Bednarek Caroline Bénech Adeline Bonnard Damien Bosquet Lydie Burglen Patrick Callier Sandra Chantot-Bastaraud Christine Coubes Charles Coutton Bruno Delobel Margaux Descharmes Jean-Michel Dupont Vincent Gatinois Nicolas Gruchy Sarah Guterman Abdelkader Heddar Lucas Herissant Delphine Heron Bertrand Isidor Pauline Jaeger Guillaume Jouret Boris Keren Paul Kuentz Cedric Le Caignec Jonathan Levy Nathalie Lopez Zoe Manssens Dominique Martin-Coignard Isabelle Marey Cyril Mignot Chantal Missirian Céline Pebrel-Richard Lucile Pinson Jacques Puechberty Sylvia Redon Damien Sanlaville Marta Spodenkiewicz Anne-Claude Tabet Alain Verloes Gaelle Vieville Catherine Yardin François Vialard Martine Doco-Fenzy 《American journal of medical genetics. Part A》2023,191(2):445-458
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients. 相似文献
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Lydie Canier Nimol Khim Saorin Kim Rotha Eam Chanra Khean Kaknika Loch Malen Ken Pieter Pannus Philippe Bosman Jorgen Stassijns Fabienne Nackers SweetC Alipon Meng Chuor Char Nguon Chea William Etienne Martin De Smet Jean-Marie Kindermans Didier Ménard 《The American journal of tropical medicine and hygiene》2015,92(3):573-577
In the context of malaria elimination, novel strategies for detecting very low malaria parasite densities in asymptomatic individuals are needed. One of the major limitations of the malaria parasite detection methods is the volume of blood samples being analyzed. The objective of the study was to compare the diagnostic accuracy of a malaria polymerase chain reaction assay, from dried blood spots (DBS, 5 μL) and different volumes of venous blood (50 μL, 200 μL, and 1 mL). The limit of detection of the polymerase chain reaction assay, using calibrated Plasmodium falciparum blood dilutions, showed that venous blood samples (50 μL, 200 μL, 1 mL) combined with Qiagen extraction methods gave a similar threshold of 100 parasites/mL, ∼100-fold lower than 5 μL DBS/Instagene method. On a set of 521 field samples, collected in two different transmission areas in northern Cambodia, no significant difference in the proportion of parasite carriers, regardless of the methods used was found. The 5 μL DBS method missed 27% of the samples detected by the 1 mL venous blood method, but most of the missed parasites carriers were infected by Plasmodium vivax (84%). The remaining missed P. falciparum parasite carriers (N = 3) were only detected in high-transmission areas. 相似文献
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization 下载免费PDF全文
Frederic Brioude Irène Netchine Francoise Praz Marilyne Le Jule Claire Calmel Didier Lacombe Patrick Edery Martin Catala Sylvie Odent Bertrand Isidor Stanislas Lyonnet Sabine Sigaudy Bruno Leheup Séverine Audebert‐Bellanger Lydie Burglen Fabienne Giuliano Jean‐Luc Alessandri Valérie Cormier‐Daire Fanny Laffargue Sophie Blesson Isabelle Coupier James Lespinasse Patricia Blanchet Odile Boute Clarisse Baumann Michel Polak Berenice Doray Alain Verloes Géraldine Viot Yves Le Bouc Sylvie Rossignol 《Human mutation》2015,36(9):894-902
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for CDKN1C mutations. For each propositus, we sequenced the three exons and intron–exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects. We developed a functional test based on flow cytometry. We identified 37 mutations in 38 pedigrees (50 patients and seven fetuses). Analysis of parental samples when available showed that all mutations tested but one was inherited from the mother. The four missense mutations led to a less severe phenotype (lower frequency of exomphalos) than the other 33 mutations. The following four tumors occurred: one neuroblastoma, one ganglioneuroblastoma, one melanoma, and one acute lymphoid leukemia. Cases of BWS caused by CDKN1C mutations are not rare. CDKN1C sequencing should be performed for BWS patients presenting with abdominal wall defects or cleft palate without 11p15 methylation defects or body asymmetry, or in familial cases of BWS. 相似文献
8.
Jessica Viviana Hinostroza Ramos Karine Anselme Anglique Simon-Masseron Lydie Ploux 《RSC advances》2018,8(44):25112
The usual sources of phosphorus for metal phosphates are obtained from phosphate rocks, of which resources are depleted. As a substitute for these mineral sources, an original method of synthesis has been developed to prepare macroporous zinc phosphates using casein phosphoprotein. This bio-sourced reactant plays during the synthesis the roles of both a phosphorus source and a reducing agent for silver nanoparticles. Thus, zinc phosphates loaded with different Ag contents (up to 6.4 wt%) are prepared via hydrothermal treatment at 100 °C. Silver nanoparticles co-crystallized with hopeite, Zn3(PO4)2 and/or Zn2P2O7. In addition, casein induces porosity within the zinc phosphate framework and provides macropores (diameter of >50 nm) during calcination. The antibacterial properties against Escherichia coli K12 bacteria of Ag-containing and Ag-free porous zinc phosphates (calcined at 750 °C) were also tested for the first time.Phosphoproteins as key reactants in an original method of synthesis of silver-doped macroporous zinc phosphates with antibacterial properties. 相似文献
9.
Cdric Farges Olivier Cointault Marlne Murris Laurence Lavayssiere Shrazade Lakhdar‐Ghazal Arnaud Del Bello Anne‐Laure Hebral Laure Esposito Marie‐Batrice Nogier Federico Sallusto Xavier Iriart Elena Charpentier Joelle Guitard Fabrice Muscari Camille Dambrin Lydie Porte Nassim Kamar Sophie Cassaing Stanislas Faguer 《Transplant infectious disease》2020,22(1)
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