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A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency 下载免费PDF全文
Courtois G Smahi A Reichenbach J Döffinger R Cancrini C Bonnet M Puel A Chable-Bessia C Yamaoka S Feinberg J Dupuis-Girod S Bodemer C Livadiotti S Novelli F Rossi P Fischer A Israël A Munnich A Le Deist F Casanova JL 《The Journal of clinical investigation》2003,112(7):1108-1115
X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB kinase (IKK) complex. IKK normally phosphorylates the IkappaB-inhibitors of NF-kappaB at specific serine residues, thereby promoting their ubiquitination and degradation by the proteasome. This allows NF-kappaB complexes to translocate into the nucleus where they activate their target genes. Here, we describe an autosomal-dominant (AD) form of EDA-ID associated with a heterozygous missense mutation at serine 32 of IkappaBalpha. This mutation is gain-of-function, as it enhances the inhibitory capacity of IkappaBalpha by preventing its phosphorylation and degradation, and results in impaired NF-kappaB activation. The developmental, immunologic, and infectious phenotypes associated with hypomorphic NEMO and hypermorphic IKBA mutations largely overlap and include EDA, impaired cellular responses to ligands of TIR (TLR-ligands, IL-1beta, and IL-18), and TNFR (TNF-alpha, LTalpha1/beta2, and CD154) superfamily members and severe bacterial diseases. However, AD-EDA-ID but not XL-EDA-ID is associated with a severe and unique T cell immunodeficiency. Despite a marked blood lymphocytosis, there are no detectable memory T cells in vivo, and naive T cells do not respond to CD3-TCR activation in vitro. Our report highlights both the diversity of genotypes associated with EDA-ID and the diversity of immunologic phenotypes associated with mutations in different components of the NF-kappaB signaling pathway. 相似文献
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Neehus Anna-Lena Tuano Karen Le Voyer Tom Nandiwada Sarada L. Murthy Kruthi Puel Anne Casanova Jean-Laurent Chinen Javier Bustamante Jacinta 《Journal of clinical immunology》2022,42(6):1244-1253
Journal of Clinical Immunology - Autosomal recessive (AR) PKCδ deficiency is a rare inborn error of immunity (IEI) characterized by autoimmunity and susceptibility to bacterial, fungal, and... 相似文献
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Abolhassani Hassan Vosughimotlagh Ahmad Asano Takaki Landegren Nils Boisson Bertrand Delavari Samaneh Bastard Paul Aranda-Guillén Maribel Wang Yating Zuo Fanglei Sardh Fabian Marcotte Harold Du Likun Zhang Shen-Ying Zhang Qian Rezaei Nima Kämpe Olle Casanova Jean-Laurent Hammarström Lennart Pan-Hammarström Qiang 《Journal of clinical immunology》2022,42(1):1-9
Journal of Clinical Immunology - Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the... 相似文献
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Kuo Chen-Yen Ku Cheng-Lung Lim Hye-Kyung Hsia Shao-Hsuan Lin Jainn-Jim Lo Chia-Chi Ding Jing-Ya Kuo Rei-Lin Casanova Jean-Laurent Zhang Shen-Ying Chang Luan-Yin Lin Tzou-Yien 《Journal of clinical immunology》2022,42(3):606-617
Journal of Clinical Immunology - Enterovirus A71 (EV71) causes a broad spectrum of childhood diseases, ranging from asymptomatic infection or self-limited hand-foot-and-mouth disease (HFMD) to... 相似文献
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Abolhassani Hassan Landegren Nils Bastard Paul Materna Marie Modaresi Mohammadreza Du Likun Aranda-Guillén Maribel Sardh Fabian Zuo Fanglei Zhang Peng Marcotte Harold Marr Nico Khan Taushif Ata Manar Al-Ali Fatima Pescarmona Remi Belot Alexandre Béziat Vivien Zhang Qian Casanova Jean-Laurent Kämpe Olle Zhang Shen-Ying Hammarström Lennart Pan-Hammarström Qiang 《Journal of clinical immunology》2022,42(3):471-483
Journal of Clinical Immunology - Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the... 相似文献