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101.
Brisset C 《Contraception, fertilité, sexualité》1979,7(12):913-916
The WHO organized in Sudan a conference on traditional practices affecting women's health, meaning such barbarous practices as excision, partial or total, of the clitoris, and infibulation. Such mutilations are still practiced in 25 African countries, notwithstanding official prohibition. Complications from such practices are several and severe, going from hemorrage to retention of urine, from serious lesions to infection and bad cicatrizations. Infertility and dysmenorrhea are long term complications, together with enormous, and often fatal, obstetrical difficulties at the time of delivery. 相似文献
102.
Minh-Tuan Huynh Anne-Sophie Lambert Lucie Tosca François Petit Christophe Philippe Frédéric Parisot Virginie Benoît Agnès Linglart Sophie Brisset Cong Toai Tran Gérard Tachdjian Aline Receveur 《European journal of medical genetics》2018,61(8):459-464
15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 microdeletion and microduplication syndromes share a common 1.2 Mb critical interval, spanning from LCR15q24B to LCR15q24C. Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities. We report the first case of a 10 year-old girl presenting mild developmental delay, psychomotor retardation, epilepsy, ventricular arrhythmia, overweight and idiopathic central precocious puberty. 180K array-CGH analysis identified a 1.38 Mb heterozygous interstitial 15q24.1 BP4-BP1 microdeletion including HCN4 combined with a concomitant 2.6 Mb heterozygous distal 15q24.2q24.3 microduplication. FISH analysis showed that both deletion and duplication occurred de novo in the proband. Of note, both copy number imbalances did not involve the 1.2 Mb minimal deletion/duplication critical interval of the 15q24.1q24.2 chromosome region (74.3–75.5 Mb). Sequencing of candidate genes for epilepsy and obesity showed that the proband was hemizygous for paternal A-at risk allele of BBS4 rs7178130 and NPTN rs7171755 predisposing to obesity, epilepsy and intellectual deficits. Our study highlights the complex interaction of functional polymorphisms and/or genetic variants leading to variable clinical manifestations in patients with submicroscopic chromosomal aberrations. 相似文献
103.
The PiCT® test is a reliable alternative to the activated partial thromboplastin time in unfractionated heparin therapy management: results from a multicenter study 下载免费PDF全文
A. C. Brisset A. Ferrández M. Krause S. Rathbun R. Marlar W. Korte 《Journal of thrombosis and haemostasis》2016,14(11):2187-2193
104.
Felix Bourier Konstantinos Vlachos Anna Lam Claire A Martin Masateru Takigawa Takeshi Kitamura Grgoire Massoulli Ghassen Cheniti Antonio Frontera Josselin Duchateau Thomas Pambrun Nicolas Klotz Nicolas Derval Arnaud Denis Mlze Hocini Michel Haïssaguerre Hubert Cochet Pierre Jaïs Frdric Sacher 《Journal of cardiovascular electrophysiology》2019,30(12):2790-2796
105.
Brisset M Chadenat ML Cordoliani Y Kamga-Tallom R D'Anglejean J Pico F 《Revue neurologique》2011,167(4):337-342
Introduction
Neurosyphilis is rare today. It arises on average 20 years after poorly treated or untreated primary syphilis. Considering the decline in the incidence of syphilitic meningo encephalitis and the little known MRI aspects, we report the case of a patient affected by neurosyphilis occurring after primary syphilis untreated for 25 years.Case report
A 65-year-old man presented typical clinical features including general paresis with psychiatric disorders, maniac access, and frontal syndrome as well as tabes dorsalis and Argyll-Robertson pupil. Brain MRI showed bilateral high intensity signals on the T2 weighted sequence located in mesiotemporal, insular, frontal regions.Conclusions
Very few cases of neurosyphilis with detailed brain MRI aspects have been reported. The interest of this case report is first to recall the importance of syphilitic serology in patients with subacute psychiatric disorders and secondly to present rarely reported aspects of the brain MRI. 相似文献106.
107.
Heresbach D Djabbari M Riou F Marcus C Le Sidaner A Pierredon-Foulogne MA Ponchon T Boudiaf M Seyrig JA Laumonier H Luet D Giraud-Cohen M Pelletier AL Charachon A Ramaholimihaso F Bouillet P Veyrac M Ficarelli S Vahedi K Keruhel J Lamouliatte H Ridereau-Zins C Bouhnik Y Tissier M Diris B Zagdanski AM Josselin JM Hamonic S Gandon Y 《Gut》2011,60(5):658-665
108.
109.
J.-C. Brisset V. Desestret S. Marcellino E. Devillard F. Chauveau F. Lagarde S. Nataf N. Nighoghossian Y. Berthezene M. Wiart 《European radiology》2010,20(2):275-285
Purpose
MRI coupled with the intravenous injection of ultrasmall superparamagnetic particles of iron oxides (USPIOs) is a promising tool for the study of neuroinflammation. Quantification of the approximate number of magnetically labelled macrophages may provide an effective and efficient method for monitoring inflammatory cells. The purpose of the present study was to characterise the relaxation properties of macrophages labelled with two types of USPIOs, at 4.7 T and 7 T. 相似文献110.
Brisset S Kasakyan S L'Herminé AC Mairovitz V Gautier E Aubry MC Benkhalifa M Tachdjian G 《Prenatal diagnosis》2006,26(3):206-213
OBJECTIVES: Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. METHODS: Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. RESULTS: Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. CONCLUSION: This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. 相似文献