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1.
Hans C. Andersson Dilys M. Parry John J. Mulvihill 《American journal of medical genetics. Part A》1995,56(1):72-75
Hereditary lymphedemas that are not associated with other malformations usually affect the lower limbs and are inherited in an autosomal dominant fashion. These non-syndromic hereditary lymphedemas are categorized by their age of onset, being either congenital (Milroy disease) or having an onset in childhood or around puberty (Meige disease). We describe a family in which three individuals in three generations had unusually late onset of lym-phedema in their mid-twenties or thirties. The proband additionally developed a very rare lymphangiosarcoma. This tumor, usually associated with post-mastectomy lym-phedema, has not been described in late-onset hereditary lymphedema. Because of an unusually high incidence of multiple primary tumors in association with lymphangiosarcoma in the literature (approximately 10%) and the proband's own familial cancer background, we speculate that an inherited predisposition to malignancy may underlie the development of lymphedema-associated lymphangiosarcoma. © 1995 Wiley-Liss, Inc. 相似文献
2.
Chy-3 mice are Vegfc haploinsufficient and exhibit defective dermal superficial to deep lymphatic transition and dermal lymphatic hypoplasia. 总被引:1,自引:0,他引:1
Michael T Dellinger Robert J Hunter Michael J Bernas Marlys H Witte Robert P Erickson 《Developmental dynamics》2007,236(8):2346-2355
Recent advances in molecular lymphology and lymphatic phenotyping techniques in small animals offer new opportunities to delineate mutant mouse models. Chy-3 mutant mice were originally named for their chylous ascites, but the underlying lymphatic disorder was not defined. We now re-examined these mice and applied advanced genotyping and lymphatic phenotyping techniques to pinpoint the specific lymphatic defect in this mouse model. We demonstrated that Chy-3 mice carry a large chromosomal deletion that includes Vegfc and narrowed this region by monitoring the heterozygosity of genetic markers. We found that Chy-3 mice not only exhibited chylous ascites but also lymphedema of the hind paws and, in approximately half of the males, lymphedema of the penis. Visual lymphangiography and immunofluorescence staining showed a hypoplastic dermal lymphatic network, whereas the blood vasculature appeared unaffected. This hypoplastic lymphatic network was functional, and all adult Chy-3 mice exhibited a lateral lymphatic pathway directly connecting the inguinal to the axillary lymph node. The dermal superficial to deep lymphatic connections in upper limbs and in all cervical regions were intact and functionally drained the upper body. Lymphatic tracer was not transported from the dermal to the deep truncal lymphatic system in the lower limbs, even though the deep lymphatic vessels and nodes were present and patent. These findings further delineate the lymphatic phenotype of Chy-3 mice, identify a collateral lymph drainage pathway previously undescribed in other genetic models of lymphedema, and demonstrate a predilection for lymphatic abnormalities of the lower limbs. 相似文献
3.
Pericentric inversions of chromosome 4: report of a new family and review of the literature 总被引:1,自引:0,他引:1
A. Villa M. Urioste M. C. Carrascosa S. Vázquez A. Martínez M. L. Martínez-Frías 《Clinical genetics》1995,48(5):255-260
A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally. 相似文献
4.
5.
R68llm6 Objectif Pour determiner l'dtat immunitaire des sons-groups l~taires T des malades aveclwtoeddlne chronique des extremitys et l' effet du traitement per micrreondes. ANt~ ie malades avec Iy7nphedimedes extradites(n = 20 ) et ies volontaires no~ux (n = 10 ) out ate studies per FITC on PHmerque MOAbs et cytometrie dcouleur double pour erminer ies changements des Phenotype l~taires T chez ies malades avec lpephoeddnZe aunt et aprdstraitement. ~flats Le rdsultat a montrd que ie pourc… 相似文献
6.
Summary In the irreversible stage of lymphedema corrective surgery is often mandatory. A choice has to be made between two different basic selective procedures. As no totally satisfactory surgical method has as yet been established surgical management is difficult and implies considerable personal responsibility. This is a report on the long-term results of operations carried out on 16 patients between 1958 and 1979 using the so called Charles procedure. It concludes that this radical operation gives an acceptable long-term result in long-standing, elephantiastic primary lymphedema of the lower extremity. 相似文献
7.
目的 观察益气活血消肿汤治疗乳腺癌术后上肢淋巴水肿(BCRL)气虚血瘀、水湿停聚证的临床疗效。方法 将符合纳入标准的60例患者随机分为两组,各30例。对照组采用手法淋巴引流联合地奥司明片治疗,观察组在对照组的基础上加用中药益气活血消肿汤治疗,两组均持续治疗1个月。观察两组患者的疗效,评估患侧上肢周径、疼痛、肩关节活动度、中医临床症状改善情况、生活质量和安全性。结果 患侧上肢周径变化方面,观察组明显优于对照组(P<0.05);疼痛缓解方面,两组患者VAS评分均较治疗前降低,且观察组改善更明显(P<0.05);肩关节活动度方面,两组患者均较治疗前有所改善,且观察组在前屈方面的改善效果明显优于对照组(P<0.05),而在后伸、内收、外展方面,两组无明显差异(P>0.05);中医临床症状改善方面,观察组总有效率(86.67%)显著高于对照组(50.00%)(P<0.05);生活质量方面,两组患者五项功能评分均校治疗前明显升高,且观察组生理状况改善程度显著优于对照组(P<0.05),其余功能两组无明显差异(P>0.05);安全性方面,两组患者治疗前后均未出现与治疗相关的不良反应,血常规、大小便常规、肝肾功能及心电图均未见异常,且无明显毒副作用。结论 益气活血消肿汤可有效减轻BCRL患者的患侧上肢水肿,缓解疼痛,改善肩关节活动度及临床症状,提高生活质量,且安全性较高。 相似文献
8.
9.
Dorte Melgaard 《Physiotherapy theory and practice》2016,32(6):446-451
Purpose: Secondary lymphedema (SL) following breast cancer is a well-known complication following surgery or radiation. SL may result in loss of functional ability, cosmetic deformities, physical discomfort, recurrent episodes of erysipelas, and psychological distress. There is no evidence as to what is the most effective treatment for SL. Methods: This randomized controlled pilot study included 10 patients treated for SL following breast cancer. The patients were included and screened for SL by a physiotherapist. They were randomized to treatment with CDP with Kinesio Textape or bandage for 4 weeks. Endpoints were quality of life, circumference of the arm, costs, and working environment for the physiotherapist. Results: The two groups were comparable according to baseline data. Outcomes on quality of life, costs, and working environment for the physiotherapist; the treatment with CDP with tape was superior to the CDP with bandage treatment. In regard to reducing the circumference there was no difference. Conclusions: This randomized controlled pilot study shows that CDP with tape can be an alternative to CDP with bandage. The quality of life is higher, the economy and working environment is better, and the effect measured by circumference is comparable. More RCTs are required to increase the evidence for CDP with tape. Implications: Treating lymphedema with CDP with tape after breast cancer is a good alternative to CDP with bandage and makes it possible to treat more patients with less resources. 相似文献
10.
Factors Associated with Reported Infection and Lymphedema Symptoms among Individuals with Extremity Lymphedema 下载免费PDF全文
Jie Deng PhD RN OCN Mei R. Fu PhD RN APRN‐BC FAAN Jane M. Armer PhD RN FAAN Janice N. Cormier MD MPH M. Elise Radina PhD CFLE Saskia R.J. Thiadens RN Jan Weiss PT DHS CLT‐LANA Catherine M. Tuppo PT MS CLT‐LANA Mary S. Dietrich PhD Sheila H. Ridner PhD RN FAAN 《Rehabilitation nursing》2015,40(5):310-319