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排序方式: 共有790条查询结果,搜索用时 296 毫秒
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Yezli Saber Yassin Yara Mushi Abdulaziz Maashi Fuad Abdelmalek Nour M. Awam Amnah H. Alotaibi Badriah M. 《European journal of clinical microbiology & infectious diseases》2023,42(6):727-740
European Journal of Clinical Microbiology & Infectious Diseases - Mass gatherings increase the risk of infectious diseases transmission including tuberculosis (TB). The Hajj pilgrimage to... 相似文献
785.
Mariana Helou Janane Nasr Nour El Osta Elsy Jabbour Rola Husni 《World Journal of Clinical Cases》2023,11(10):2189-2200
The coronavirus disease 2019 (COVID-19) initially presented as a disease that affected the lungs. Then, studies revealed that it intricately affected disparate organs in the human body, with the liver being one of the most affected organs. This review aimed to assess the association between COVID-19 and liver function, shedding light on its clinical implication. However, its exact pathophysiology remains unclear, involving many factors, such as active viral replication in the liver cells, direct cytotoxic effects of the virus on the liver or adverse reactions to viral antigens. Liver symptoms are mild-to-moderate transaminase elevation. In some patients, with underlying liver disease, more serious outcomes are observed. Thus, liver function should be meticulously considered in patients with COVID-19. 相似文献
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Nour Elkhateeb Giorgia Olivieri Barbara Siri Stewart Boyd Karolina M. Stepien Reena Sharma Andrew A. M. Morris Thomas Hartley Laura Crowther Stephanie Grunewald Maureen Cleary Helen Mundy Anupam Chakrapani Robin Lachmann Elaine Murphy Saikat Santra Mari-Liis Uudelepp Mildrid Yeo Isaac Bernhardt Sniya Sudakhar Alicia Chan Philippa Mills Debora Ridout Paul Gissen Carlo Dionisi-Vici Julien Baruteau 《Epilepsia》2023,64(6):1612-1626
Objective
Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy, and movement disorder. Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria.Methods
We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data.Results
Thirty-seven patients, 1–31 years of age, were included. Twenty-two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic-clonic and focal seizures were most common in early-onset patients, whereas atypical absences were predominant in late-onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p = .04) and autism spectrum disorders (p = .01) and more frequent arginine supplementation (p = .01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non-epileptic patients. Epilepsy onset in early infancy (p = .05) and electroencephalographic background asymmetry (p = .0007) were significant predictors of partially controlled or refractory epilepsy.Significance
Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic factors for pharmacoresistance in epilepsy. This study does not support defective ureagenesis as prominent in the pathophysiology of epilepsy but suggests a role of central dopamine deficiency. A role of arginine in epileptogenesis was not supported and warrants further studies to assess the potential arginine neurotoxicity in argininosuccinic aciduria. 相似文献788.
Pamela L. Wolters Stephanie Reda Staci Martin Nour Al Ghriwati Melissa Baker Dale Berg Gregg Erickson Barbara Franklin Vanessa L. Merker Beverly Oberlander Stephanie Reeve Claas Rohl Tena Rosser Mary Anne Toledo-Tamula Ana-Maria Vranceanu 《American journal of medical genetics. Part A》2022,188(1):71-82
The coronavirus pandemic increased anxiety and stress and prevented access to health care worldwide; it is unclear how COVID-19 affected adults with a multisystem genetic disorder such as neurofibromatosis (NF). An anonymous online survey was distributed through an international registry and foundations to adults with NF (June–August 2020) to assess the impact of the pandemic on mental health and NF health care. Six hundred and thirteen adults (18–81 years; M = 45.7) with NF1 (77.8%), NF2 (14.2%), and schwannomatosis (7.8%) provided complete responses. Respondents rated moderate-to-high amounts of worry about the impact of COVID-19 on their emotional (46.3%) and physical health (46.7%), and 54.8% endorsed moderate-to-high pandemic-related stress. Adults with diagnosed/suspected mental health disorders or moderate-to-severe NF symptom impact as well as females endorsed higher COVID-19 stress (ps < 0.01). Less than half who missed a doctor's appointment for their NF care (43.4%) used telehealth. Of these, 33.3% and 46.2% reported that telehealth met their needs to a moderate or high degree, respectively. Results indicated that subgroups of adults with NF experience higher COVID-19-related worries and stress and may need additional support. Furthermore, telehealth is under-utilized and could help NF providers connect with patients, although improved delivery and patient training may facilitate expanded use of these services. 相似文献
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790.
Ali Ataei Mahsa Tahsili Golsa Hayadokht Maziar Daneshvar Shabnam Mohammadi Nour Asma Soofi Alireza Masoudi Maryam Kabiri Mohammad Natami 《Chemical biology & drug design》2023,102(3):640-652
Neuroblastoma (NB) is the third most prevalent tumor that mostly influences infants and young children. Although different treatments have been developed for the treatment of NB, high-risk patients have been reported to have low survival rates. Currently, long noncoding RNAs (lncRNAs) have shown an attractive potential in cancer research and a party of investigations have been performed to understand mechanisms underlying tumor development through lncRNA dysregulation. Researchers have just newly initiated to exhibit the involvement of lncRNAs in NB pathogenesis. In this review article, we tried to clarify the point we stand with respect to the involvement of lncRNAs in NB. Moreover, implications for the pathologic roles of lncRNAs in the development of NB have been discussed. It seems that some of these lncRNAs have promising potential to be applied as biomarkers for NB prognosis and treatment. 相似文献