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1.
E. LeGuern R. Gouider D. Mabin S. Tardieu Bs N. Birouk P. Parent P. Bouche A. Brice 《Annals of neurology》1997,41(1):104-108
Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was more severely affected than the heterozygous sibling who was pausiymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene. 相似文献
2.
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? 总被引:2,自引:1,他引:2
LeGuern E; Gouider R; Ravise N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A 《Human molecular genetics》1996,5(1):103-106
Hereditary neuropathy with liability to pressure palsies (HNPP) is an
autosomal dominant neuropathy, most often associated with a deletion of the
17p11.2 region, which is duplicated in 70% of patients with Charcot-
Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of
paternal origin. A rare case of de novo HNPP of maternal origin was
analysed to determine the underlying mechanism. Affected individuals in the
family carried a deletion corresponding to the CMT1A/HNPP monomer unit
associated with a rearrangement of the CMT1A-REP sequences. Segregation
analysis of 17p11-p12 markers in the family indicated that the deletion was
not generated by unequal crossing over between homologous 17 chromosomes,
as in de novo cases from paternal origin, but rather by an intrachromosomal
rearrangement. Two distinct mechanisms can therefore lead to the same
17p11.2 deletion. This result suggests that intrachromosomal rearrangement
may be specific to maternal transmissions.
相似文献
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4.
Selma Charfeddine Wiem Feki Imen Maaloul Rania Hammami Emna Daoud 《Journal of the Saudi Heart Association》2020,32(4):454
Intramyocardial dissecting hematoma (IDH) is a rare complication of myocardial infarction (MI). It can affect the left ventricular free wall, the right ventricle, or the interventricular septum. We report a case of a 58-year-old man with an IDH following an acute anterior wall myocardial infarction detected by echocardiography and confirmed by Cardiac magnetic resonance (CMR). 相似文献
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Abdelkefi A Ben Othman T Torjman L Ladeb S Lakhal A Belhadj S Ayari S Cherif N Ben Achour O Chaker E Ben Abdeladhim A 《The hematology journal : the official journal of the European Haematology Association / EHA》2004,5(5):449-450
We describe a case of Plasmodium falciparum infection in a 25-year-old male patient with a myelodysplastic syndrome, who underwent allogeneic peripheral blood stem cell transplantation (PBSCT) in September 2003. Conditioning regimen consisted of total body irradiation (10 Gy) and cyclophosphamide 60 mg/kg for 2 days. A dose of 4 x 10(6) CD34+ cells/kg was transfused. Engraftment was well documented on day 17 post-transplantation. Spiking fevers occurred on days 19 and 21, associated with a pancytopenia, hepatosplenomegaly and neurological signs. P. falciparum parasites were found on the peripheral blood smear (parasitemia = 23%). Marrow aspiration showed P. falciparum parasites and proliferation of mature histiocytes with hemophagocytosis. Quinine 10 mg/kg i.v. three times a day for 10 consecutive days was given. The fever subsided within 3 days, and pancytopenia vanished in 14 days. Parasitemia cleared in 6 days. The patient left the unit on day 46 with no further complications. The screening of donors showed that infection was acquired from two blood units (from a single donor) given 5 days before transplantation. We report the first case of profound hemophagocytosis in immunosuppressed patient with malaria of high parasitemia after a bone marrow transplant. 相似文献
7.
N. Ben Salah W. El BorgiA. Chelbi F. Ben LakhalE. Gouider H. Aounallah SkhiriR. Hafsia 《Pathologie-biologie》2014
Objective
The determination of the cellular lineage in acute leukemia is a crucial step in the diagnosis and the later therapeutic conduct. In Tunisia, emerging country, some cases of acute leukemias are still treated on the basis of an only cytologic study because of lack of cytometry. Our objective is to realize a confrontation between cytology and flow cytometry in the diagnosis of AL and to analyze discrepancies.Patients and methods
The study concerns 100 cases of AL. A second double-blind examination of the bone marrow smears of acute leukemias is realized by two cytologists and confronted to immunophenotyping.Results
In two cases of AML, flow cytometry reassigned lineage into T ALL and biphenotypic AL. In three cases of ALL the lineage was reassigned into undifferentiated acute leukemia (2 cases) and biphenotypic acute leukemia (1 case). Lineage was not established in four cases, immunophenotyping allowed the diagnosis of B ALL in 3 cases, and of biphenotypic acute leukemia in 1 case. In both cases of discrepant findings, flow cytometry allowed the diagnosis of biphenotypic acute leukemia in a case and of AML in the other one.Conclusion
The cytological study remains insufficient in the diagnosis of lineage even with experimented cytologists. Immunophenotyping is essential in lineage assignment and reassignment. 相似文献8.
N. Ben Salah W. El Borgi F. Ben Lakhal M. Ben Mansour E. Gouider Y. Gorgi R. Bardi B. Zoueri R. Hafsia 《Transfusion Clinique et Biologique》2014,21(6):314-319
AimEvaluate the anti-erythrocyte and anti-HLA immunization rates in hemoglobinopathies.Patients and methodsCross-sectional study (October 2009–March 2010) on 83 patients followed for hemoglobinopathies. The irregular antibodies research is realized by two techniques: indirect Coombs and enzymatic technique on gel cards. The search for anti-HLA class I antibodies is done by complement dependent lymphocytotoxicity.ResultsThe mean age was 30 years (14–64 years), the sex ratio M/F is 0.84. Our series included 42 cases of sickle cell disease (29 homozygous sickle cell anemia and 13 sickle-thalassemia) and 41 cases of thalassemia syndromes (26 major and 15 intermediate). The anti-erythrocyte alloimmunization rate is 10.84% without difference between thalassemia syndromes and sickle cell disease. The autoimmunization rate (22.89%) is higher in thalassemia syndromes (41.46%) than in the sickle cell disease (7.14%) (P < 0.001). The anti-HLA immunization rate is 31.6% without difference between thalassemia syndromes and sickle cell disease. The young age, transfusion at a young age and the total number of transfusions are the factors that increase the risk of anti-erythrocyte autoimmunization. No clinicobiological parameter does influence the anti-erythrocyte and anti-HLA alloimmunization. There is no significant association between anti-erythrocyte and anti-HLA immunization.ConclusionThe erythrocyte and anti-HLA anti-immunization rates are high in our series. Preventive strategy is needed to ensure optimal blood safety. 相似文献
9.
Ichrak Bougharriou Emna Elleuch Salma Ben Hmida Ala Meddeb Zaher Boudaouara Brahim Kammoun Mounir Ben Jemaa 《La Tunisie médicale》2022,100(1):56
Background. Hydatidosis is an endemic parasitosis in Tunisia that affect mostly the liver and the lung. Brain involvment is rare. Aim. To focus on diagnostic, therapeutic and evolutive characteristics of cerebral hydatidosis. Methods. We report all cases of cerebral hydatidosis seen in the infectious diseases and neurosurgery departments between January 2013 and June 2020. Results. Six cases of intracranial hydatid cyst were reported. The male to female ratio was 3:3. Age ranged from 3 to 60 years with a median age of 20,5 years. All patients lived in rural areas. The clinical symptomatology was progressive in 4 cases. It was dominated by headache (all cases). Brain imaging confirmed the diagnosis in all cases. The hydatid cyst was solitary and supratentorial in 3 cases. All the patients were operated. Albendazole was prescribed immediately after surgery, for 6 months in 5 cases and for 3 years in the case of disseminated hydatidosis. The outcome was favorable without recurrence in all patients with an average follow-up of 3,5 ± 0,5 years. Conclusion. Hydatid cyst of the brain is characterized by the severity of the neurological signs, the mandatory use of surgery because of life threatening and the excellent outcomes. 相似文献
10.