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91.
92.
Mory F Carlier JP Alauzet C Thouvenin M Schuhmacher H Lozniewski A 《Journal of clinical microbiology》2005,43(10):5380-5383
Metronidazole resistance among Prevotella spp. is rare. We report here the first case of bacteremia due to a high-level metronidazole-resistant Prevotella sp. responsible for treatment failure. 相似文献
93.
Claire Bihoreau Agns Heurtier Alain Enjalbert Nicole Corvaïa Armand Bensussan Laurent Degos Claude Kordon 《European journal of immunology》1991,21(11):2877-2882
A monoclonal antibody (OKT3) directed against the T cell receptor (TcR)/CD3 molecular complex, as well as a protein kinase C (PKC) activator (phorbol 12-myristate 13-acetate, PMA) were added to a culture of tumoral Jurkat T cells, in order to precise the sequence of intracellular signals leading to T cell activation. The experiments were performed in the presence or in absence of various stimulators of adenylate cyclase (AC) such as forskolin (FK), cholera toxin (CT) or prostaglandin E2 (PGE2). OKT3 increased inositol phosphate (IP) production; in parallel, it induced a slight accumulation of cAMP. The effect was markedly potentiated in presence of FK or CT, and to a lesser extent in the presence of PGE2. FK stimulated adenylate cyclase of Jurkat cell membranes, but the effect was not potentiated by OKT3, suggesting that potentiation of cAMP accumulation requires intact cells and is not mediated by direct receptor coupling. On the other hand, elevated cAMP accumulation induced a negative feedback on IP production. The effect of OKT3 on cAMP was mimicked by A23187, a Ca2+ ionophore, and abolished in the absence of extracellular Ca2+. PMA had the same effect as OKT3 on basal or FK- and CT-induced accumulation of cAMP. In contrast, it inhibited the PGE2 effect on the cyclic nucleotide. After desensitization of PKC by pretreatment with a high concentration of PMA, the phorbol ester was no longer effective. Under those conditions, facilitation by OKT3 of FK-induced accumulation of cAMP was preserved, whereas potentiation by the monoclonal antibody of the PGE2 stimulation of AC was even enhanced. The data indicate that cAMP accumulation indirectly elicited by phospholipase C activation is, at least partly, mediated by IP-dependent Ca2+ mobilization, while PKC is preferentially effective as an inhibitor of PGE2 stimulation. 相似文献
94.
Alain Verloes Martine Le Merrer Jean-Pierre Farriaux Pierre Maroteaux 《Clinical genetics》1991,39(5):362-369
Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely. 相似文献
95.
Yann Vasserot Patrick Chemardin Alain Arnaud Pierre Galzy 《Journal of basic microbiology》1991,31(4):301-312
A yeast strain isolated in the laboratory was studied and classified as a Candida molischiana. The β-glucosidase of this yeast strain was then purified. Its molecular weight, estimated by gel filtration, was 100,000. The enzyme consisted of only one subunit, identified after treatment with sodium dodecyl sulfate. Maximum activity was obtained at 55°C and pH 4 but the enzyme still possessed activity at pH 2.5. Active against different glucosides with β(1–2), β(1–3), β(1–4), β(1–6), and α(1–4) configurations it presented an α(1–6)-arabinofuranosidase activity. The enzyme was competitively inhibited by glucose (Ki 9.5 mm). A glucosyltransferase activity appeared in the presence of ethanol. The enzyme was constitutive but its synthesis was repressed by glucose. 相似文献
96.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
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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
97.
98.
99.
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
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![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
100.
Stéphane Molotchnikoff Alain Cérat 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1992,91(1):94-104
Summary The response characteristics to linear frequency sweeps were studied in two groups of FM (frequency modulation) sensitive neurons in the rat inferior colliculus. FM specialized cells responded to frequency sweeps but not to pure tones. Mixed cells responded to both frequency sweeps and pure tones. FM specialized cells preferred faster and broader sweeps of higher intensity than did mixed cells and were more directionally selective. In addition, FM specialized cells were more sharply tuned to FM velocity and FM range and had longer response latencies. Physiologically identified FM cells stained intracellularly with horseradish peroxidase revealed differences in morphology correlating with the differences in their responses to tones. FM specialized cells had larger dendritic fields, more dendritic branching and more dendritic spines than did mixed cells. The findings are taken as evidence that the two groups of inferior colliculus neurons are both functionally and morphologically distinct. 相似文献