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排序方式: 共有494条查询结果,搜索用时 15 毫秒
1.
ALBERTO Q FARIAS LUCIANA L GONÇALVES EDUARDO LR CANÇADO ANTONIO C SEGURO SILVIA B CAMPOS CLARICE P ABRANTES-LEMOS FLAIR J CARRILHO 《Journal of gastroenterology and hepatology》2006,20(1):147-152
Background and Aims: Primary biliary cirrhosis (PBC) might be complicated by osteoporosis, whose etiology remains unknown but seems to be multifactorial. Prevalence rates of 30% to 60% for distal renal tubular acidosis (DRTA) have been reported in PBC patients, generally as incomplete DRTA. Although it is undisputed that a reduced bone mineral density (BMD) is the expected outcome among patients who have been suffering from longstanding chronic metabolic acidosis, it is unclear if incomplete DRTA is also associated with metabolic bone disease in PBC patients. The present study was undertaken to compare the BMD of PBC patients with and without DRTA.
Methods: The BMD of 23 PBC patients (11 with DRTA and 12 without), all with normal clearance of creatinine, was assessed by dual energy radiograph absorptiometry. The diagnosis of DRTA was made if the urine pH was above 5.4 in all samples after the oral acid overload, showing tubular inability to acidify urine in the presence of test-induced systemic metabolic acidosis.
Results: Densitometric signs of osteoporosis were found in 82% of DRTA cases and in 83% of patients without DRTA (difference not significant). There were no significant differences in BMD measurement, T and Z scores of patients with and without DRTA.
Conclusions: The present study could not support a correlation between the presence of DRTA and the bone loss observed in PBC patients. 相似文献
Methods: The BMD of 23 PBC patients (11 with DRTA and 12 without), all with normal clearance of creatinine, was assessed by dual energy radiograph absorptiometry. The diagnosis of DRTA was made if the urine pH was above 5.4 in all samples after the oral acid overload, showing tubular inability to acidify urine in the presence of test-induced systemic metabolic acidosis.
Results: Densitometric signs of osteoporosis were found in 82% of DRTA cases and in 83% of patients without DRTA (difference not significant). There were no significant differences in BMD measurement, T and Z scores of patients with and without DRTA.
Conclusions: The present study could not support a correlation between the presence of DRTA and the bone loss observed in PBC patients. 相似文献
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MGC Hendriks P Dogterom JT Ebels B Oosterhuis LR Geertsema T Hulot G Bianchetti and JHG Jonkman 《Fundamental & clinical pharmacology》1998,12(5):559-565
Summary— In the present study we have compared the steady state biopharmaceutic characteristics of four diltiazem once daily controlled release capsules: Mono-Tildiem LP 300® (300 mg), Adizem® XL (300 mg)1, Cardizem® (300 mg) and Dilacor® (240 mg). Sixteen healthy male volunteers (aged 22.9 ± 3.3 years, range 19–31 years) completed an open label, multiple oral dose, randomized, four-period crossover study without a washout period in between. The volunteers received each diltiazem formulation once daily for four days. Trough diltiazem and metabolites plasma concentrations were determined on days 3 and 4. The 24-h plasma concentration-time profiles were assessed after the dose on day 4 of each period. The following steady state pharmacokinetic parameters for diltiazem were calculated: the minimum plasma concentration (cmin), the maximum plasma concentration (cmax), the time to reach that concentration (tmax), the time interval during which the plasma concentration exceeds 50% of cmax (t50), the area under the plasma concentration-time curve (AUC72–96) and the peak-to-trough fluctuation (PTF). For the metabolites of diltiazem, N-mono-desmethyl-diltiazem (NDM) and desacetyldiltiazem (DAD), AUC72–96 (AUCNDM and AUCDAD) and the ratio metabolite/parent compound were calculated. Steady state was achieved on day 3. Except one, all controlled release formulations have satisfactory controlled release properties allowing once daily administration. However, significant (P < 0.05) differences were found between the pharmacokinetic characteristics which do not allow exchange of the various formulations. Concentrations well below 50 ng·mL-1 in the morning hours were observed for Dilacor® (240 mg) and Adizem® XL (300 mg), which could be a disadvantage of these formulations as it is well-known that ischaemic events occur at a higher rate during that part of the day. The plasma concentration profiles of NDM and DAD, the major circulating metabolites, parallel the plasma concentration profiles for the parent compound. From a clinical point of view, all treatments were well tolerated. 相似文献
4.
Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study 总被引:6,自引:0,他引:6
Ober C; Hyslop T; Elias S; Weitkamp LR; Hauck WW 《Human reproduction (Oxford, England)》1998,13(1):33-38
The role that maternal and fetal human leukocyte antigen (HLA) genes play
in pregnancy is unknown, but it has been suggested that fetuses whose HLA
alleles do not differ from maternal alleles (i.e. histocompatible fetuses)
are more likely to be aborted than fetuses with HLA alleles that differ
from maternal alleles (i.e. histoincompatible fetuses). To elucidate the
role of HLA compatibility in pregnancy, we tested the hypothesis that
couples who match for HLA alleles or haplotypes would have reduced
fertility because only these couples could produce histocompatible fetuses.
We conducted a 10 year prospective study of HLA matching and pregnancy
outcome in 111 Hutterite couples, providing information on 251 pregnancies.
A logistic regression analysis was performed to determine the effects of
HLA matching at HLA regions and loci on pregnancy outcome (fetal loss
versus delivery). Significantly increased fetal loss rates were observed
among couples matching for the entire 16-locus haplotype (P = 0.002). Among
the individual loci, loss rates were increased among couples matching for
HLA-B (P = 0.019), HLA-C (P = 0.033) and the complement component, C4 (P =
0.043). We interpret these results as evidence that matching for the entire
16-locus haplotype and/or alleles at an HLA-B-linked locus confers
significant risk for fetal loss.
相似文献
5.
Schover LR; Thomas AJ; Falcone T; Attaran M; Goldberg J 《Human reproduction (Oxford, England)》1998,13(4):862-866
Many couples undergoing in-vitro fertilization (IVF) are at a higher risk
of having a child with a genetic abnormality. In a sample of 55 consecutive
couples starting IVF, only 33% had no genetic risk factor. The most common
genetic risks were advanced maternal age and possible abnormalities
associated with severe male infertility. Despite education on these risks,
71% of couples had no interest in receiving formal genetic counselling.
Only 14% of couples at risk would consider using a gamete donor to avoid
transmitting a genetic disorder to a child. The triple test to screen for
fetal abnormalities was acceptable to 82% of couples, but only 47% planned
to have amniocentesis or chorionic villi sampling. Couples were
significantly more likely to opt for prenatal testing if they would
consider terminating a pregnancy should the fetus have a severe genetic
abnormality (P < 0.01). Roman Catholic couples tended to have more
conservative attitudes about pregnancy termination. Socio-economic status
and whether the infertility factor was male or female were not predictors
of a couple's attitudes.
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
10.
Angioscopy-assisted aneurysm clipping. 总被引:1,自引:0,他引:1
OBJECTIVE: To test the concept that endovascular angioscopy can assist surgical intracranial aneurysm clipping by providing an endoluminal view of the aneurysm-parent vessel complex. METHODS: A carotid bifurcation aneurysm was surgically created in a dog at the lingual artery origin. A balloon catheter was inflated proximal to the aneurysm to block proximal blood flow and allow endoluminal visualization. A flexible angioscope connected to a video monitoring system and to a high-intensity light source was then advanced within the catheter lumen and positioned immediately distal to the catheter tip. The aneurysm neck was clipped, and the clip was repositioned several times along the neck, with or without distal parent vessel compromise. Each time, the endovascular image on the monitor was interpreted by an observer blinded to the position of the clip. Clip position and image interpretation were communicated independently to a third person, who analyzed the correlation between them. RESULTS: Angioscopy allowed clear visualization of the extent of aneurysm neck occlusion (complete, incomplete, residual "dog ear") after clip application, as well as the presence or absence of distal parent vessel compromise. Aneurysm neck configuration, size, presence of thrombus, and suture line definition were depicted. Critical structures external to the aneurysm-parent vessel complex were transilluminated by the high-intensity lamp. CONCLUSION: Although acknowledged as the treatment of choice for intracranial aneurysms, surgical exclusion can be accompanied by significant morbidity related to perforator occlusion, parent artery compromise, and/or persistent residual aneurysm. The availability of a device allowing visualization of an aneurysm from an endoluminal perspective theoretically could reduce the incidence of these complications. Angioscopy has the potential to become a useful adjunct during intracranial aneurysm clipping because it provides real-time endoluminal viewing of the aneurysm-distal parent vessel complex, which is sometimes obscured to the surgeon. 相似文献