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11.
Khadija EL. Mouaden D.S. Chauhan M.A. Quraishi Lahcen Bazzi 《Sustainable Chemistry and Pharmacy》2020
A facile single-step synthesis was performed to cross-link chitosan with thiocarbohydrazide to yield thiocarbohydrazide-chitosan (TC-Cht) which was for the first time evaluated as an inhibitor for corrosion of stainless steel in 3.5% NaCl solution. A comprehensive electrochemical analysis employing electrochemical impedance spectroscopy (EIS), potentiodynamic polarization (PDP), and cyclic voltammetry (CV) was undertaken and showed that the TC-Cht acts by adsorption on the steel surface and exhibits mixed type behavior with predominantly cathodic nature. The adsorption of TC-Cht molecules on the surface of stainless steel followed the Langmuir isotherm. The TC-Cht showed a high inhibition efficiency of >94% at 500 mg L?1 concentration. Surface investigation using SEM and EDX supported the inhibitor adsorption on the steel surface. 相似文献
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Ba Khadija Casolla Barbara Caparros François Bricout Nicolas Della Schiava Lucie Pasi Marco Dequatre-Ponchelle Nelly Bodenant Marie Bordet Régis Cordonnier Charlotte Hénon Hilde Leys Didier 《Journal of neurology》2021,268(1):305-311
Journal of Neurology - The epileptogenicity of recombinant tissue-plasminogen activator (rt-PA) has been suggested, but seizures were not evaluated in randomised controlled trials. To evaluate... 相似文献
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Marie Marduel Khadija Ouguerram Valérie Serre Dominique Bonnefont‐Rousselot Alice Marques‐Pinheiro Knut Erik Berge Martine Devillers Gérald Luc Jean‐Michel Lecerf Laurent Tosolini Danièle Erlich Gina M. Peloso Nathan Stitziel Patrick Nitchké Jean‐Philippe Jaïs Marianne Abifadel Sekar Kathiresan Trond Paul Leren Jean‐Pierre Rabès Catherine Boileau Mathilde Varret 《Human mutation》2013,34(1):83-87
Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low‐density lipoproteins (LDLs). We now report an exceptionally large family including 14 members with ADH. Through genome‐wide mapping, analysis of regional/functional candidate genes, and whole exome sequencing, we identified a mutation in the APOE gene, c.500_502delTCC/p.Leu167del, previously reported associated with sea‐blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha‐helix in the binding domain, (2) a decreased apo E level in LDLs, and (3) a decreased catabolism of LDLs. Our results show that mutations in the APOE gene can be associated with bona fide ADH. 相似文献
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S. Fahiminiya M. Almuriekhi Z. Nawaz A. Staffa P. Lepage R. Ali L. Hashim J. Schwartzentruber K. Abu Khadija S. Zaineddin H. Gamal J. Majewski T. Ben‐Omran 《Clinical genetics》2014,86(2):134-141
Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease‐causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease‐causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1‐bp deletion (c.915del) in NSUN2 in a male proband with Noonan‐like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying WES as a diagnostic tool led to the unambiguous identification of disease‐causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in ?25% of our cases. 相似文献
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Julien Tarabeux Bruno Zeitouni Virginie Moncoutier Henrique Tenreiro Khadija Abidallah Séverine Lair Patricia Legoix-Né Quentin Leroy Etienne Rouleau Lisa Golmard Emmanuel Barillot Marc-Henri Stern Thomas Rio-Frio Dominique Stoppa-Lyonnet Claude Houdayer 《European journal of human genetics : EJHG》2014,22(4):535-541
To meet challenges in terms of throughput and turnaround time, many diagnostic laboratories are shifting from Sanger sequencing to higher throughput next-generation sequencing (NGS) platforms. Bearing in mind that the performance and quality criteria expected from NGS in diagnostic or research settings are strikingly different, we have developed an Ion Torrent''s PGM-based routine diagnostic procedure for BRCA1/2 sequencing. The procedure was first tested on a training set of 62 control samples, and then blindly validated on 77 samples in parallel with our routine technique. The training set was composed of difficult cases, for example, insertions and/or deletions of various sizes, large-scale rearrangements and, obviously, mutations occurring in homopolymer regions. We also compared two bioinformatic solutions in this diagnostic context, an in-house academic pipeline and the commercially available NextGene software (Softgenetics). NextGene analysis provided higher sensitivity, as four previously undetected single-nucleotide variations were found. Regarding specificity, an average of 1.5 confirmatory Sanger sequencings per patient was needed for complete BRCA1/2 screening. Large-scale rearrangements were identified by two distinct analyses, that is, bioinformatics and fragment analysis with electrophoresis profile comparison. Turnaround time was enhanced, as a series of 30 patients were sequenced by one technician, making the results available for the clinician in 10 working days following blood sampling. BRCA1/2 genes are a good model, representative of the difficulties commonly encountered in diagnostic settings, which is why we believe our findings are of interest for the whole community, and the pipeline described can be adapted by any user of PGM for diagnostic purposes. 相似文献
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Hanane Delsa Khadija Bellahammou Hussein Hassan Okasha Fahd Ghalim 《World Journal of Clinical Cases》2023,11(10):2181-2188
Endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) is an excellent investigation to diagnose pancreatic lesions and has shown high accuracy for its use in pathologic diagnosis. Recently, macroscopic on-site evaluation (MOSE) performed by an endoscopist was introduced as an alternative to rapid on-site cytologic evaluation to increase the diagnostic yield of EUS-FNB. The MOSE of the biopsy can estimate the adequacy of the sample directly by the macroscopic evaluation of the core tissue obtained from EUS-FNB. Isolated pancreatic tuberculosis is extremely rare and difficult to diagnose because of its non-specific signs and symptoms. Therefore, this challenging diagnosis is based on endoscopy, imaging, and the bacteriological and histological examination of tissue biopsies. This uncommon presentation of tuberculosis can be revealed as pancreatic mass mimicking cancer. EUS-FNB can be very useful in providing a valuable histopathological diagnosis. A calcified lesion with a cheesy core in MOSE must be suggestive of tuberculosis, leading to the request of the GeneXpert, which can detect Mycobacterium tuberculosis deoxyribonucleic acid and resistance to rifampicin. A decent diagnostic strategy is crucial to prevent unnecessary surgical resection and to supply conservative management with antitubercular therapy. 相似文献
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Demaria Lucie Borie Raphael Benali Khadija Piekarski Eve Goossens Julia Palazzo Elisabeth Forien Marine Dieudé Philippe Crestani Bruno Ottaviani Sébastien 《Clinical rheumatology》2020,39(9):2727-2734
Clinical Rheumatology - Bone sarcoidosis is usually rare. Imaging procedures such as fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) can reveal bone... 相似文献