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61.
Wessels MW Berger RM Frohn-Mulder IM Roos-Hesselink JW Hoogeboom JJ Mancini GS Bartelings MM Krijger Rd Wladimiroff JW Niermeijer MF Grossfeld P Willems PJ 《American journal of medical genetics. Part A》2005,(2):171-179
Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect. 相似文献
62.
Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency 总被引:1,自引:0,他引:1
Garenc C Couillard C Laflamme N Cadelis F Gagné C Couture P Julien P Bergeron J 《European journal of human genetics : EJHG》2005,13(10):1159-1165
Lipoprotein lipase (LPL) plays a major role in triglyceride (TG)-rich lipoprotein catabolism. A mutation at codon 207 (P207L) in the exon 5 of the LPL gene has been associated with 50% reduction in postheparin plasma LPL activity and significant increase in plasma TG levels in heterozygous individuals with low HDL. However, heterogeneity in fasting TG concentrations among these carriers suggests that other factors may be involved in the expression of this hypertriglyceridemic state. Indeed, previous studies have shown that the rare S2 allele of the APOC3 Sst I polymorphism was associated with higher concentrations of TG levels in noncarriers of LPL defect. Therefore, we investigated the association of the APOC3 Sst I variant on fasting lipoprotein-lipid levels in a sample of 35 heterozygous men bearing the LPL P207L mutation. Genetic association analyses were performed using the two-genotype groups S1/S1 and S1/S2. The genotype S1/S2 group was characterized by greater plasma cholesterol (plasma-C, P=0.02), plasma-TG (P=0.04), very low-density lipoproteins (VLDL)-C (P=0.004), VLDL-TG (P=0.01), VLDL-apolipoprotein B (apoB) (P=0.001) levels and cholesterol/HDL-C ratio (P=0.008), as well as lower VLDL-TG/VLDL-apoB ratio compared to the S1/S1 genotype group. These results support an exacerbating effect of the APOC3 Sst I single-nucleotide polymorphism on fasting TG levels since a large number of smaller VLDL particles are observed in LPL-deficient men bearing the APOC3 S2 allele. 相似文献
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Petit J Klam F Grantyn A Berthoz A 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1999,125(3):287-301
Pontine omnipause neurons (OPNs) have so far been considered as forming a homogeneous group of neurons whose tonic firing
stops during the duration of saccades, when the head is immobilized. In cats, they pause for the total duration of gaze shifts,
when the head is free to move. In the present study, carried out on alert cats with fixed heads, we present observations made
during self-initiated saccades and during tracking of a moving target which show that the OPN population is not homogeneous.
Of the 76 OPNs we identified, 39 were found to have characteristics similar to those of previously described neurons, ”saccade”
(S-) OPNs: (1) the durations of their pauses were significantly correlated with the durations of saccades; (2) the discharge
ceased shortly before saccade onset and resumed before saccade end; (3) visual responses to target motion were excitatory;
and (4) during tracking, S-OPNs interrupted the discharge for the duration of saccades and resumed firing during perisaccadic
”drifts”. However, the characteristics of 37 neurons (”complex” (C-) OPNs) were different: (1) the pause duration was not
correlated with the duration of self-initiated saccades; (2) time lead of pause onsets relative to saccades was, on average,
longer than in the group of S-OPNs, and firing resumed after the saccade end; (3) visual target motion suppressed tonic discharges;
and (4) during tracking, firing was interrupted for the total duration of gaze shifts, including not only saccades but also
perisaccadic ”drifts”. We conclude that cat OPNs can be subdivided into two main groups. The first comprises neurons whose
firing patterns are compatible with gating individual saccades (”saccade” OPNs). The second group consists of ”complex” OPNs
whose firing characteristics are appropriate to gate total gaze displacements rather than individual saccades. The function
of these neurons may be to disinhibit pontobulbar circuits participating in the generation of saccade sequences and associated
perisaccadic drifts.
Received: 20 January 1998 / Accepted: 22 October 1998 相似文献
66.
A. D'Errico W. F. Grigioni M. Fiorentino P. Baccarini G. L. Grazi A. M. Mancini 《Pathology international》1994,44(9):682-687
The overexpression of p53 protein and the Ki67 proliferative index was evaluated in 96 hepatocellular carcinomas (HCC), 67 in cirrhotic livers and 29 in non-cirrhotic ones, and in 13 non-carcinomatous lesions, all surgically resected from Italian patients. Overexpression of p53 was detected only in carcinomatous lesions, and was significantly related to the grade of HCC ( P < 0.001). In fact, p53 was observed in 7/7 (100%) cases of grade IV, 13/43 (30.3%) of grade III, and 10/ 46 (21.7%) of grade II. The relationship between p53 and Ki67 scores was determined in serial sections from corresponding areas of both diffuse and patchy immunoreactivity. In the overall population, p53-positive tumors showed a significantly higher Ki67 score (15.9 ± 5.5% vs 9.2 ± 4.3% [ P < 0.001]). This observation was evident in all grades of HCC. 相似文献
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Julien Guihaire Serena D'Avino Francois Stephan Martin Kloeckner Ngoc Tram To Agathe Potier Maïra Gaillard Ramzi Ramadan Jean‐Luc Taupin Jerome Le Pavec Philippe Deleuze 《Clinical transplantation》2021,35(1):e14146
Antihuman leukocyte antigen (HLA) antibodies restrict the access to cardiac allografts. Desensitization therapy is a major challenge in patients with cardiogenic shock waiting for urgent heart transplantation (HT). We retrospectively reviewed six patients (mean age of 37.5 years [16–70]) who underwent plasmapheresis (PP) under extracorporeal membrane oxygenation (ECMO) before transplant between January 2017 and September 2018. The average duration of follow‐up was 25 months [20–32]. Mean fluorescence intensity (MFI) of HLA‐specific antibodies was reported as follows: score 4 for MFI < 1000, score 6 for 1000 < MFI < 3000 and score 8 for MFI > 3000. The mean duration of ECMO support was 29 days [1–74] and 6.8 [1–29] PP sessions were performed per patient before transplant. The mean number of HLA‐specific antibodies before HT was 9.6 for score 6 [4–13] and 5.8 for score 8 [1–12]. Four patients had major complications after transplantation (2 hemorrhagic shocks, 5 infectious events). Mean MFI reduction rate was 94% [79–100] for Class I and 44.2% for Class II [0–83]. Hospital survival was 100%, and early antibody‐mediated rejection was diagnosed in one patient at 7 days after HT. Plasmapheresis under ECMO support was associated with favorable early outcomes in highly sensitized candidates for urgent heart transplantation. 相似文献
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