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排序方式: 共有1053条查询结果,搜索用时 15 毫秒
51.
Iman Amy Betawi Sinaria Kamil Abdel Jabbar Mohammad. A. AL Jabery Haidar Ibrahim Zaza Muhannad Al-Shboul 《Early child development and care》2014,184(12):1992-2003
This study examined fathers' perceptions regarding their home-based activities (HBA) and the influence of fathers' demographic characteristics on their perceptions and practices at home. A total of 396 fathers completed a survey questionnaire describing their demographic information, perceptions and their practices regarding their involvement in HBA. Results indicated that fathers have moderate level of practice concerning their HBA, yet they have low perception of their actual practice at HBA. In addition, there was a statistical significance in HBA due to fathers' age, educational level and specialisation which had an influence on their perceptions as well. Recommendations and implications of future research were discussed. 相似文献
52.
Justin Taylor Mark T.A. Donoghue Caleb Ho Kseniya Petrova-Drus Hikmat A. Al-Ahmadie Samuel A. Funt Yanming Zhang Umut Aypar Pavitra Rao Shweta S. Chavan Michael Haddadin Roni Tamari Sergio Giralt Martin S. Tallman Raajit K. Rampal Priscilla Baez Rajya Kappagantula Satyajit Kosuri Ahmet Dogan Satish K. Tickoo Victor E. Reuter George J. Bosl Christine A. Iacobuzio-Donahue David B. Solit Barry S. Taylor Darren R. Feldman Omar Abdel-Wahab 《The Journal of clinical investigation》2020,130(12):6668
53.
Danielle Carpenter Carmen Taype Jon Goulding Mike Levin Brian Eley Suzanne Anderson Marie-Anne Shaw John AL Armour 《BMC medical genetics》2014,15(1):1-8
Background
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion.Methods
Thirty-two 22q11.2DS subjects among 26 families were enrolled.Results
Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P?=?0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P?<?0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability.Conclusions
Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 相似文献54.
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57.
AL Naik A Savlania A Gupta P Rastogi A Singh 《Annals of the Royal College of Surgeons of England》2021,103(3):e94
Behçet’s disease is a rare disease characterised by recurrent oral ulcers, with systemic manifestations including genital ulcers, ocular disease, skin lesions, gastrointestinal disease, neurologic disease, vascular disease and arthritis. Most clinical manifestations of Behçet’s disease are believed to be due to vasculitis. The heterogeneous clinical spectrum is influenced by sex, ethnicity and country of residence. Vascular manifestation in the form of isolated large brachial artery aneurysm is rare in children. Treatment involves aneurysmorrhaphy to avoid rupture or ischaemic sequelae in addition to lifelong medical management to control vasculitis. 相似文献
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59.
Oscar Hidalgo‐Lanussa Eliana Baez‐Jurado Valentina Echeverria Ghulam Md Ashraf Amirhossein Sahebkar Luis Miguel Garcia‐Segura Roberto C. Melcangi George E. Barreto 《Journal of neuroendocrinology》2020,32(1)
The high concentrations of free fatty acids as a consequence of obesity and being overweight have become risk factors for the development of different diseases, including neurodegenerative ailments. Free fatty acids are strongly related to inflammatory events, causing cellular and tissue alterations in the brain, including cell death, deficits in neurogenesis and gliogenesis, and cognitive decline. It has been reported that people with a high body mass index have a higher risk of suffering from Alzheimer's disease. Hormones such as oestradiol not only have beneficial effects on brain tissue, but also exert some adverse effects on peripheral tissues, including the ovary and breast. For this reason, some studies have evaluated the protective effect of oestrogen receptor (ER) agonists with more specific tissue activities, such as the neuroactive steroid tibolone. Activation of ERs positively affects the expression of pro‐survival factors and cell signalling pathways, thus promoting cell survival. This review aims to discuss the relationship between lipotoxicity and the development of neurodegenerative diseases. We also elaborate on the cellular and molecular mechanisms involved in neuroprotection induced by oestrogens. 相似文献
60.
Minimal invasive complete excision of benign breast tumors using a three-dimensional ultrasound-guided mammotome vacuum device. 总被引:21,自引:0,他引:21
OBJECTIVE: The aim of this study was to evaluate the use of three-dimensional (3D) ultrasonography in the complete excision of benign breast tumors using ultrasound-guided vacuum-assisted core-needle biopsy (Mammotome). A protocol for the management of benign breast tumors is proposed. METHOD: Twenty consecutive patients with sonographically benign breast lesions underwent 3D ultrasound-guided mammotome biopsy under local anesthesia. The indication for surgical biopsy was a solid lesion with benign characteristics on both two-dimensional (2D) and 3D ultrasound imaging, increasing in size over time or causing pain or irritation. Preoperatively, the size of the lesion was assessed using 2D and 3D volumetry. During vacuum biopsy the needle was visualized sonographically in all three dimensions, including the coronal plane. Excisional biopsy was considered complete when no residual tumor tissue could be seen sonographically. Ultrasonographic follow-up examinations were performed on the following day and 3-6 months later to assess residual tissue and scarring. RESULTS: All lesions were histologically benign. Follow-up examinations revealed complete excision of all lesions of < 1.5 mL in volume as assessed by 3D volumetry. 3D ultrasonographic volume assessment was more accurate than 2D using the ellipsoid formula or assessment of the maximum diameter for the prediction of complete excision of the tumor. No bleeding or infections occurred postoperatively and no scarring was seen ultrasonographically on follow-up examinations. CONCLUSIONS: Ultrasound-guided vacuum-assisted biopsy allows complete excision of benign breast lesions that are =1.5 mL in volume (calculated by 3D volumetry), and thus avoids open surgery and postoperative scarring. Under local anesthesia it is a safe procedure with optimal compliance. 3D ultrasound offers the advantage of better preoperative demonstration of the lesions' margins, resulting in better assessment of volumetry, improved intraoperative needle location and perioperative identification of residual tumor tissue. 3D sonographically guided biopsy should be integrated into breast cancer screening programs as a safe therapeutic option for breast lesions presumed to be benign. 相似文献