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排序方式: 共有2648条查询结果,搜索用时 31 毫秒
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Edouard Augstburger Arnaud Ballino Chafik Keilani Mathieu Robin Christophe Baudouin Antoine Labb 《Investigative ophthalmology & visual science》2021,62(2)
PurposeThe purpose of this study was to describe capillary changes in patients with nonarteritic anterior ischemic optic neuropathy (NAION) using optical coherence tomography-angiography (OCT-A) and correlate the results with best corrected visual acuity (BCVA), visual field, OCT retinal nerve fiber layer (RNFL), and combined thickness of ganglion cell and inner plexiform layers (GCIPL) thicknesses.MethodsWe enrolled 22 eyes with acute NAION and 30 normal control (NC) subjects in this study. Whole en face image vessel density (WiVD) was measured in the radial peripapillary capillary plexus (RPC), superficial capillary plexus (SCP), and deep vascular complex (DVC) using OCT-A. The examination was repeated at 1 (M1), 3 (M3), 6 (M6), and 9 (M9) months after presentation for NAION.ResultsThe initial RPC WiVD was significantly reduced in the acute NAION group compared to the NC group (P < 0.0001). Over the course of NAION follow-up, RPC WiVD was significantly reduced at M1 (P < 0.001 compared to M0) and M3 (P < 0.0001 compared to M1). However, there was no significant further decrease at M6 and M9. The initial SCP WiVD was significantly reduced in the NAION group compared to the NC group (P < 0.0001 for both). Over the course of NAION follow-up, a significant decrease was observed for SCP WiVD at M1 (P < 0.001 compared to M0), but no significant change was seen at M3, M6, or M9. DVC was normal in the NAION group. Correlations were found between GCIPL and SCP WiVD in the NAION acute phase (R = 0.604, P = 0.003) and in the M9 atrophic stage (R = 0.551, P = 0.009). At M9, RPC WiVD was correlated with BCVA (R = −0.562, P = 0.007), mean deviation (R = 0.518, P = 0.01), and RNFL (R = 0.655, P = 0.001).ConclusionsOver the course of NAION, OCT-A provided detailed visualization of retinal capillary plexus involvement. 相似文献
74.
Abduljabbar M Taheini K Picard JY Cate RL Josso N 《Hormone research in p?diatrics》2012,77(5):291-297
Our goal was to compare phenotype and genotype in two extended Middle-Eastern families affected by persistent Müllerian duct syndrome due to mutations of the type II anti-Müllerian hormone receptor (AMHR-II). The first, consanguineous, family consisted of 6 boys and 2 girls, the second consisted of 4 girls and 2 boys. In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous girls were normal. In the homozygous males, the degree of development of Müllerian derivatives was variable. The uterus was well developed in 2 boys of family I and in the patient from family II; however, in 1 subject from family I, Müllerian derivatives were undetectable. Taken together, the diversity of clinical symptoms within the same sibship and the lack of correlation between the development of the Müllerian derivatives and the severity of the molecular defects suggest highly variable penetrance of the abnormal alleles and/or the existence of other genetic or epigenetic modifiers of gene expression. 相似文献
75.
Olivia Boyer Stéphanie Woerner Fan Yang Edward J. Oakeley Bolan Linghu Olivier Gribouval Marie-Josèphe Tête José S. Duca Lloyd Klickstein Amy J. Damask Joseph D. Szustakowski Fran?oise Heibel Marie Matignon Véronique Baudouin Fran?ois Chantrel Jacqueline Champigneulle Laurent Martin Patrick Nitschké Marie-Claire Gubler Keith J. Johnson Salah-Dine Chibout Corinne Antignac 《Journal of the American Society of Nephrology : JASN》2013,24(8):1216-1222
76.
Justyna Jezierska Giovanni Stevanin Hiroyuki Watanabe Michiel R. Fokkens Fabien Zagnoli Jérôme Kok Jean-Yves Goas Pierre Bertrand Christophe Robin Alexis Brice Georgy Bakalkin Alexandra Durr Dineke S. Verbeek 《Journal of neurology》2013,260(7):1807-1812
We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxia cases, which had a positive family history; most are of French origin. Sequencing revealed three novel putative missense mutations and one heterozygous two-base pair deletion in four independent SCA patients. These variants were absent in 400 matched controls and are located in the highly conserved dynorphin domain. To resolve the pathogenicity of the heterozygous variants, we assessed the peptide production of the mutant PDYN proteins. Two missense mutations raised dynorphin peptide levels, the two-base pair deletion terminated dynorphin synthesis, and one missense mutation did not affect PDYN processing. Given the outcome of our functional analysis, we may have identified at least two novel PDYN mutations in a French and a Moroccan SCA patient. Our data corroborates recent work that also showed that PDYN mutations only account for a small percentage (~0.1 %) of European SCA cases. 相似文献
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Laurène Dehoux Julien Hogan Claire Dossier Marc Fila Olivier Niel Anne Maisin Marie Alice Macher Thérésa Kwon Véronique Baudouin Georges Deschênes 《Pediatric nephrology (Berlin, Germany)》2016,31(11):2095-2101
Background
Prospective studies have established the mycophenolate mofetil (MMF) efficiency in childhood idiopathic nephrotic syndrome (INS) but reports on the long-term outcome are lacking. Moreover, the search for factors influencing its efficiency would be useful to define its place among the other treatments.Methods
We performed a monocentric retrospective study including 96 children with steroid-dependent INS followed for 4.7 years (median) (IQ 3–6) after the onset of MMF treatment. The characteristics of responder patients (n?=?74), as defined by a 50 % decrease of relapse rate and/or a 60 % decrease of steroid dose, and of non-responder patients (n?=?22) were compared by univariate analysis and multivariate logistic regression.Results
Withdrawal of prednisone was achieved in 48/96 patients after a median duration of 18.1 months (IQ 7.8–30.0) of MMF. Only 26/48 patients did not relapse under MMF alone. After MMF was stopped in these patients, only six remained in remission without any treatment at last follow-up. Responders had a shorter time to remission at the first flare (9.5 vs. 15 days, p?=?0.02), a shorter disease duration prior to the onset of MMF (22.2 vs. 94.5 months, p?=?0.001), and were younger at the MMF initiation (6.7 vs. 10.1 years, p?=?0.02) than non-responder patients. The age of MMF initiation was an independent factor associated with efficiency (OR?=?0.80, 95 % CI [0.69, 0.93], p?<?0.01).Conclusions
MMF is more efficient in young patients treated early in the disease course. Nevertheless, MMF has no remnant effect while nearly all patients relapsed after withdrawal of the drug.79.
80.
Marie-Pierre Audrézet Christine Corbiere Said Lebbah Vincent Morinière Fran?oise Broux Ferielle Louillet Michel Fischbach Ariane Zaloszyc Sylvie Cloarec Elodie Merieau Véronique Baudouin Georges Deschênes Gwenaelle Roussey Sandrine Maestri Chiara Visconti Olivia Boyer Carine Abel Annie Lahoche Hanitra Randrianaivo Lucie Bessenay Djalila Mekahli Ines Ouertani Stéphane Decramer Amélie Ryckenwaert Emilie Cornec-Le Gall Rémi Salomon Claude Ferec Laurence Heidet 《Journal of the American Society of Nephrology : JASN》2016,27(3):722-729
Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function. 相似文献