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K.M. Olszowy J. Lavelle K. Rachfal S. Hempstead K. Drouin J.M. Darcy II C. Reiber R.M. Garruto 《Public health》2014
Objectives
It is currently unknown whether chronic wasting disease (CWD), a transmissible spongiform encephalopathy of cervids, is transmissible to humans. Reported on here are the behavioural risk factors and health conditions associated with a six-year follow-up of a known point-source exposure to a CWD infected deer in an Upstate New York community.Study design
Longitudinal.Methods
The Oneida County Chronic Wasting Disease Surveillance Project was launched in 2005 in response to a point-source exposure to a CWD infected deer at a March 2005 Sportsmen's feast in Upstate New York. Eighty-one exposed individuals participated in the 2005 baseline data collection, and were sent follow-up questionnaires following each deer hunting season between 2005 and 2011.Results
Over a six year period, participants reported a reduction in overall venison consumption. Participants reported no significant changes in health conditions, although several conditions (vision loss, heart disease, type 2 diabetes, weight changes, hypertension, and arthritis), were significantly associated with age.Conclusions
To this day, this incident remains the only known large-scale point-source exposure to a CWD infected deer. Prion diseases can incubate for multiple decades before the manifestation of clinical symptoms; thus, continued surveillance of this exposed study population represents a unique opportunity to assess the risk of CWD transmission to humans. This project is uniquely situated to provide the first epidemiological evidence of CWD transmission to humans, should it occur. 相似文献23.
Macoura Gadji Ana‐Maria Crous‐Tsanaclis David Mathieu Sabine Mai David Fortin Régen Drouin 《Neuropathology》2014,34(2):170-178
The combined 1p‐/19q‐ deletions in oligodendrogliomas originate from translocation between both chromosomes. In the few cases of oligoastrocytomas and glioblastomas with an oligodendroglioma component (GBMO) where only 1p deletion was described, the origin remains unknown. We report the first case of GBMO, in which a single 1p deletion was detected and was linked to a translocation between chromosomes 1 and 7. Fresh surgical specimens were collected during surgery and the samples were used for cell culture, touch preparation smear slides (TP slides) and DNA extraction. Peripheral venous blood was also collected from the patient. G‐banding using Trypsin and stained with Giemsa (GTG) banding and karyotyping were performed and 1p‐/19q‐, TP53, PTEN and c‐MYC were analyzed by fluorescent in situ hybridization (FISH). Multicolor FISH (mFISH) and microsatellites analyses were also performed to complete the investigation. Three‐dimensional quantitative FISH (3D‐QFISH) of telomeres was performed on nuclei from TP slides and analyzed using TeloViewTM to determine whether the 3D telomere profile as an assessment of telomere dysfunction and a characterization of genomic instability could predict the disease aggressiveness. An unbalanced chromosomal translocation was found in all metaphases and confirmed by mFISH. The karyotype of the case is: 50~99,XXX, +der(1;7)(q10;p10),inc[47] The derivative chromosome was found in all 47 analyzed cells, but the number of derivatives varied from one to four. There was neither imbalance in copy number for genes TP53 and PTEN, nor amplification of c‐MYC gene. We did not find loss of heterozygosity with analysis of microsatellite markers for chromosomes 1p and 19q in tumor cells. The 3D‐telomere profile predicted a very poor prognostic and short‐term survival of the patient and highlights the potential clinical power of telomere signatures as a solid biomarker of GBMO. Furthermore, this translocation between chromosomes 1 and 7 led to a singular 1p deletion in this GBMO and may generate the 1p and 7q deletions. 相似文献
24.
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
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de Lonlay P Seta N Barrot S Chabrol B Drouin V Gabriel BM Journel H Kretz M Laurent J Le Merrer M Leroy A Pedespan D Sarda P Villeneuve N Schmitz J van Schaftingen E Matthijs G Jaeken J Korner C Munnich A Saudubray JM Cormier-Daire V 《Journal of medical genetics》2001,38(1):14-19
INTRODUCTION—Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms.
METHODS—We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin.
RESULTS—Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient).
CONCLUSIONS—Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
Keywords: CDG; phosphomannomutase; phosphomannose isomerase; dolichyl-phosphate glucose:mannose 9 N-acetylglycosamine 2 glucosyltransferase 相似文献
METHODS—We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin.
RESULTS—Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient).
CONCLUSIONS—Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.
Keywords: CDG; phosphomannomutase; phosphomannose isomerase; dolichyl-phosphate glucose:mannose 9 N-acetylglycosamine 2 glucosyltransferase 相似文献
25.
Vaginal intraepithelial neoplasia 总被引:9,自引:0,他引:9
This study comprised the largest number (76) of cases of vaginal intraepithelial neoplasia (VaIN) so far reported. Women diagnosed with VaIN were older (mean age 50.2 years) than those diagnosed with cervical intraepithelial neoplasia (CIN). Many of the women had previously undergone (71.2%). In the majority of cases, the diagnosis was made after cytologic testing. In 92.4% of the cases, the lesions affected the upper third of the vagina. Grades of VaIN were distributed as follows: grade 1 52.6%, grade 2 191.%, grade 3 28.9%, with a 15-year interval between VaIN 1 and 2 as a group and VaIN 3 as another group. The cases of VaIN were divided into five groups: VaIN de novo; VaIN + CIN; VaIN postradiotherapy; VaIN + CIN + VIN; and incidental finding of VaIN on the surgical specimen. The therapeutic modalities were heterogeneous; CO2 laser therapy was used most frequently (54.2%). Failures are attributed mainly to the multifocal character of the lesions (particularly with human papilloma virus infection) or their localization in the vaginal angles. Overall, the number of cases, the duration of follow-up (39.2 months), and the unsatisfactory results with CO2 laser therapy have led us to propose a therapeutic decision tree where in which 5-fluorouracil plays a major role, CO2 laser and surgical therapeutic modalities having limited and precise indications. 相似文献
26.
Primary thrombocythemia in pregnancy: a report of two cases 总被引:1,自引:0,他引:1
B Mercer J Drouin E Jolly G d'Anjou 《American journal of obstetrics and gynecology》1988,159(1):127-128
We report two cases of primary thrombocythemia diagnosed during pregnancy. One patient developed transient visual field defects. She was treated with plateletpheresis at term and delivered of a normal child by cesarean section. The second patient was not treated. Intrauterine fetal death occurred at 36 weeks' gestation from multiple placental infarcts. In cases of primary thrombocythemia, we suggest close monitoring of both mother and fetus throughout pregnancy. 相似文献
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Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 相似文献