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91.
Pinelopi Dragoumi Finbar O’Callaghan Dimitrios I. Zafeiriou 《European journal of paediatric neurology》2018,22(6):1027-1034
Tuberous sclerosis complex is a dominantly inherited genetic disorder of striking clinical variability. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. TS is characterized by the development of benign tumors in many tissues and organs and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. With mechanism-based mTOR inhibitors therapy now available for many of its manifestations, early diagnosis of TSC is very important in order to offer appropriate care, long-term surveillance and parental counseling. Fetal ultrasound and MRI imaging techniques have evolved and may capture even earlier the following TSC-associated lesions: cardiac rhabdomyomas, subependymal nodules, cortical tubers and renal cysts. Often these represent an incidental finding during a routine ultrasound. Furthermore, in the past decades prenatal molecular diagnosis of TSC has emerged as an important option for families with a known affected member; however, the existing evidence with regards to the clinical characteristics and long-term outcome of babies diagnosed prenatally with TSC is yet limited and the path that follows early TSC detection merits further research. 相似文献
92.
93.
Pinelopi N. Gogou Anna Batistatou Emilios E. Pakos Nikiforos Apostolikas Dimitrios Stefanou Pericles G. Tsekeris 《Clinical & translational oncology》2009,11(8):548-551
Introduction
The expression of E-cadherin, β-catenin and topoisomerase II has been associated with clinical outcome of several cancers including sarcomas. We aimed to evaluate the expression of these markers in leiomyosarcomas (LMS). 相似文献94.
Lung clearance index and moment ratios at different cut‐off values in infant multiple‐breath washout measurements 下载免费PDF全文
95.
Paolo Ripellino Agustina Maria Lascano Olivier Scheidegger Lenka Schilg-Hafer Bettina Schreiner Pinelopi Tsouni Alex Vicino Anne-Kathrin Peyer Andrea Monika Humm Bernhard Friedrich Décard Enea Pianezzi Giulia Zezza Davide Sparasci Thomas Hundsberger Anelia Dietmann Hans Jung Thierry Kuntzer Einar Wilder-Smith Gladys Martinetti-Lucchini Orlando Petrini Stefano Fontana Peter Gowland Christoph Niederhauser Claudio Gobbi 《European journal of neurology》2024,31(1):e16030
96.
Interrupter technique in infancy: Higher airway resistance and lower short‐term variability in preterm versus term infants 下载免费PDF全文
97.
Heat shock protein beta 3 (HSPB3) is an unfavorable molecular biomarker in colorectal adenocarcinoma
98.
Ioannis E. Vasileiadis Christos A. Goudis Pinelopi T. Giannakopoulou Tong Liu 《COPD》2018,15(2):148-156
ABSTRACTChronic obstructive pulmonary disease (COPD) is a complex disorder that primarily affects the lungs and is characterized not only by local pulmonary, but also by systemic inflammation which promotes the development of extrapulmonary and cardiovascular co-morbidities. Angiotensin converting enzyme (ACE) inhibitors and ARBs (angiotensin receptor blockers) are widely used drugs in the treatment of cardiovascular diseases, with growing evidence suggesting potential benefits in COPD patients. The purpose of this review is to describe the correlation of renin–angiotensin system (RAS) with COPD pathophysiology and to present the latest data regarding the potential role of RAS blockers in COPD. 相似文献
99.
Stephania Guzman Magdalena Dragan Hyokjoon Kwon Vanessa de Oliveira Shivani Rao Vrushank Bhatt Katarzyna M. Kalemba Ankit Shah Vinod K. Rustgi He Wang Paul R. Bech Ali Abbara Chioma Izzi-Engbeaya Pinelopi Manousou Jessie Y. Guo Grace L. Guo Sally Radovick Waljit S. Dhillo Fredric E. Wondisford Andy V. Babwah Moshmi Bhattacharya 《The Journal of clinical investigation》2022,132(10)
Nonalcoholic fatty liver disease (NAFLD), the most common liver disease, has become a silent worldwide pandemic. The incidence of NAFLD correlates with the rise in obesity, type 2 diabetes, and metabolic syndrome. A hallmark featureof NAFLD is excessive hepatic fat accumulation or steatosis, due to dysregulated hepatic fat metabolism, which can progress to nonalcoholic steatohepatitis (NASH), fibrosis, and cirrhosis. Currently, there are no approved pharmacotherapies to treat this disease. Here, we have found that activation of the kisspeptin 1 receptor (KISS1R) signaling pathway has therapeutic effects in NAFLD. Using high-fat diet–fed mice, we demonstrated that a deletion of hepatic Kiss1r exacerbated hepatic steatosis. In contrast, enhanced stimulation of KISS1R protected against steatosis in wild-type C57BL/6J mice and decreased fibrosis using a diet-induced mouse model of NASH. Mechanistically, we found that hepatic KISS1R signaling activates the master energy regulator, AMPK, to thereby decrease lipogenesis and progression to NASH. In patients with NAFLD and in high-fat diet–fed mice, hepatic KISS1/KISS1R expression and plasma kisspeptin levels were elevated, suggesting a compensatory mechanism to reduce triglyceride synthesis. These findings establish KISS1R as a therapeutic target to treat NASH. 相似文献
100.
Insa Korten Elisabeth Kieninger Sophie Yammine Giulia Cangiano Sylvia Nyilas Pinelopi Anagnostopoulou Florian Singer Claudia E. Kuehni Nicolas Regamey Urs Frey Carmen Casaulta Ben D. Spycher Philipp Latzin 《Journal of cystic fibrosis》2019,18(1):118-126