全文获取类型
收费全文 | 328篇 |
免费 | 17篇 |
国内免费 | 1篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 6篇 |
妇产科学 | 6篇 |
基础医学 | 44篇 |
口腔科学 | 10篇 |
临床医学 | 24篇 |
内科学 | 60篇 |
皮肤病学 | 9篇 |
神经病学 | 31篇 |
特种医学 | 1篇 |
外科学 | 80篇 |
综合类 | 2篇 |
预防医学 | 23篇 |
眼科学 | 7篇 |
药学 | 31篇 |
肿瘤学 | 11篇 |
出版年
2023年 | 3篇 |
2022年 | 10篇 |
2021年 | 8篇 |
2020年 | 6篇 |
2019年 | 8篇 |
2018年 | 16篇 |
2017年 | 3篇 |
2016年 | 4篇 |
2015年 | 11篇 |
2014年 | 13篇 |
2013年 | 14篇 |
2012年 | 20篇 |
2011年 | 25篇 |
2010年 | 13篇 |
2009年 | 11篇 |
2008年 | 16篇 |
2007年 | 20篇 |
2006年 | 17篇 |
2005年 | 22篇 |
2004年 | 16篇 |
2003年 | 16篇 |
2002年 | 13篇 |
2001年 | 6篇 |
2000年 | 8篇 |
1999年 | 7篇 |
1998年 | 3篇 |
1997年 | 3篇 |
1996年 | 4篇 |
1995年 | 1篇 |
1994年 | 3篇 |
1993年 | 1篇 |
1992年 | 1篇 |
1991年 | 1篇 |
1990年 | 3篇 |
1989年 | 4篇 |
1988年 | 4篇 |
1986年 | 6篇 |
1985年 | 4篇 |
1980年 | 1篇 |
1979年 | 1篇 |
排序方式: 共有346条查询结果,搜索用时 15 毫秒
341.
342.
343.
Chaitra Banala William P. Brasher Rashmi Kanagal Shamanna Lara Bashoura Saadia A. Faiz 《Clinical Case Reports》2022,10(4)
27 year old man with newly diagnosed acute myeloid leukemia presents with new parenchymal consolidation. Although biopsy was precluded, diagnostic studies support myeloid sarcoma. Resolution of consolidation occurred with hematopoietic stem cell transplantation. 相似文献
344.
345.
Hammad Yousaf Shagufta Rehmat Muhammad Jameel Rabab Ibrahim Sohana Nadeem Hashmi Ehtisham Ul Haq Makhdoom Justyna Iwaszkiewicz Saadia Maryam Saadi Muhammad Tariq Shahid M. Baig Mathias Toft Ambrin Fatima Zafar Iqbal 《Clinical genetics》2023,104(3):324-333
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM # 619150 ) is an ultra-rare childhood-onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impaired cognition, progressive psychomotor deterioration and/or drug-refractory seizures. We investigated three consanguineous Pakistani families with six affected individuals presenting overlapping phenotypes partially consistent with the reported characteristics of IDDPADS. Whole exome sequencing identified a novel missense variant in Phosphodiesterase 2A (PDE2A): NM_002599.4: c.1514T > C p.(Phe505Ser) that segregated with the disease status of individuals in these families. Retrospectively, we performed haplotype analysis that revealed a 3.16 Mb shared haplotype at 11q13.4 among three families suggesting a founder effect in this region. Moreover, we also observed abnormal mitochondrial morphology in patient fibroblasts compared to controls. Belonging to diverse age groups (13 years-60 years), patients presented paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and drug-refractory seizures with variable onset of disease (as early as 3 months of age to 7 years). Together with the previous reports, we observed that intellectual disability, progressive psychomotor deterioration, and drug-refractory seizures are consistent outcomes of the disease. However, permanent choreodystonia showed variability. We also noticed that the later onset of paroxysmal dyskinesia manifests severe attacks in terms of duration. Being the first report from Pakistan, we add to the clinical and mutation spectrum of PDE2A-related recessive disease raising the total number of patients from six to 12 and variants from five to six. Together, with our findings, the role of PDE2A is strengthened in critical physio-neurological processes. 相似文献
346.