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排序方式: 共有285条查询结果,搜索用时 15 毫秒
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Bone marrow transplantation for the treatment of acute nonlymphoblastic leukemia in children aged less than 2 years 总被引:1,自引:1,他引:0
Eleven children with acute nonlymphoblastic leukemia in first remission who were less than 2 years of age at diagnosis were treated with 120 mg/kg of cyclophosphamide, 12-Gy fractionated total-body irradiation, and marrow transplantation. Seven patients remain in complete remission from 3.5 to 13.8 years posttransplant, four for more than 6.75 years. The immediate posttransplant course was relatively uncomplicated in surviving patients. No child developed severe graft-v-host disease. The major long-term side effect has been a slowing in growth. Although the prognosis for such children with conventional chemotherapy remains poor, intensive cytotoxic therapy and marrow transplantation offers an alternative therapy with a chance for cure. 相似文献
215.
Herpes simplex virus lesions recur in 8–30% of infants who receive a course of parenteral antiviral therapy for an initial infection. Long-term acyclovir is used by some clinicians to prevent recurrent Herpes simplex disease. We describe nine infants who were treated with doses of oral acyclovir which were chosen to achieve 2-h post-plasma concentrations of ≥2 μg/ml. Eight infants had Herpes simplex encephalitis and one had multiple recurrences of dermal and ocular disease. The target plasma concentration was chosen in order to attain acyclovir cerebrospinal fluid distribution (≤50% plasma) for an estimated ID30 of Herpes simplex II strains of 0.1–0.5μg/ml. One of nine patients failed to achieve the target plasma acyclovir concentration. One of nine patients developed symptomatic recurrence of the central nervous system disease and none of the remaining eight patients experienced recognized dermal or neurologic recurrence of Herpes simplex disease. Renal and neurologic status were routinely monitored and no signs of acyclovir toxicity were observed. Plasma concentration of acyclovir ≥2μg/ml may be achieved with average oral doses of 1340mg/m2 /dose (1000–1740 mg/m2 /dose) given at 12-h intervals. 相似文献
216.
Primitive Reflex Profile 总被引:1,自引:1,他引:0
217.
ED Primrose JM Savage CA Boreham GW Cran JJ Strain 《Archives of disease in childhood》1994,71(3):239-242
Hypercholesterolaemia is a major risk factor for the development of coronary heart disease (CHD). Early detection and management of hypercholesterolaemia could retard the atherosclerotic process. Given that CHD and hypercholesterolaemia cluster within families, a screening strategy based on a family history of vascular disease has been advocated. Serum total cholesterol concentrations were measured in a random stratified sample of 1012 children aged from 12-15 years old participating in a coronary risk factor surveillance study in Northern Ireland. Information about vascular disease in close family members was obtained by means of a questionnaire. The study population was divided into two groups according to total cholesterol values: (i) normal, < 5.2 mmol/l (n = 822) and (ii) raised, > or = 5.2 mmol/l (n = 190). A family history identified 63 out of 190 individuals with hypercholesterolaemia yielding a sensitivity of 33.2% and specificity of 71.5%. Our data indicated that a strategy whereby only children from high risk families are screened for hypercholesterolaemia is ineffective. While primary prevention emphasising a healthy diet for all is essential, the role of universal screening deserves further appraisal. 相似文献
218.
Two frequent missense mutations in Pendred syndrome 总被引:8,自引:3,他引:8
Van Hauwe P; Everett LA; Coucke P; Scott DA; Kraft ML; Ris-Stalpers C; Bolder C; Otten B; de Vijlder JJ; Dietrich NL; Ramesh A; Srisailapathy SC; Parving A; Cremers CW; Willems PJ; Smith RJ; Green ED; Van Camp G 《Human molecular genetics》1998,7(7):1099-1104
Pendred syndrome is an autosomal recessive disorder characterized by early
childhood deafness and goiter. A century after its recognition as a
syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to
chromosome 7q22-q31.1 and, recently, found to encode a putative sulfate
transporter. We performed mutation analysis of the PDS gene in patients
from 14 Pendred families originating from seven countries and identified
all mutations. The mutations include three single base deletions, one
splice site mutation and 10 missense mutations. One missense mutation
(L236P) was found in a homozygous state in two consanguineous families and
in a heterozygous state in five additional non-consanguineous families.
Another missense mutation (T416P) was found in a homozygous state in one
family and in a heterozygous state in four families. Pendred patients in
three non-consanguineous families were shown to be compound heterozygotes
for L236P and T416P. In total, one or both of these mutations were found in
nine of the 14 families analyzed. The identification of two frequent PDS
mutations will facilitate the molecular diagnosis of Pendred syndrome.
相似文献
219.
Peter Branney BSc MSc PhD Karl Witty BA MSc Debbie Braybrook BSc PhD Kate Bullen BSc MEd PhD Alan White BSs Cert ED MSc PhD RGN Ian Eardley MA FRCS MChir FRCS FEBU 《International Journal of Urological Nursing》2016,10(3):137-145
Survival for penile cancer is high but treatment can have a long‐term detrimental effect on urological function and quality of life. Owing to its rarity, it is difficult to include men with penile cancer in research about their condition. The aim of this study was to identify aspects of their diagnosis and treatment that they would want explored in penile cancer research. The study employed a participative, mixed qualitative methods design; it utilized focus groups and patient‐conducted interviews, combined into a 1 day ‘pilot workshop’. The data were analysed using framework analysis. ‘Early signs and seeking help’, ‘disclosure of a ‘personal’ cancer’ and ‘urological (dys)function’ emerged as three key themes. Men with penile cancer want research about their condition to explore early signs and helping seeking, disclosure of a ‘personal’ cancer and urological (dys)function. Research could use methodologies that include consideration of the chronological narrative of the experiences of men with penile cancer, which could be applied in clinical practice by integrating opportunities to explore specific aspects of their experiences at appropriate times along the care pathway. 相似文献
220.