标题
Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia
作者
关键词
-
出版物
SCIENCE
Volume 340, Issue 6135, Pages 976-978
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2013-04-12
DOI
10.1126/science.1234864
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- High-resolution cryo-electron microscopy structure of the Trypanosoma brucei ribosome
- (2013) Yaser Hashem et al. NATURE
- Crystal structure of the 80S yeast ribosome
- (2012) Lasse Jenner et al. CURRENT OPINION IN STRUCTURAL BIOLOGY
- Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module
- (2012) Matthew Koss et al. DEVELOPMENTAL CELL
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Persistent thrombocytosis in elderly patients with rare hyposplenias that mimic essential thrombocythemia
- (2012) Shinsaku Imashuku et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Specialized ribosomes: a new frontier in gene regulation and organismal biology
- (2012) Shifeng Xue et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mycobacterial Disease and Impaired IFN- Immunity in Humans with Inherited ISG15 Deficiency
- (2012) D. Bogunovic et al. SCIENCE
- SnIPRE: Selection Inference Using a Poisson Random Effects Model
- (2012) Kirsten E. Eilertson et al. PLoS Computational Biology
- Tabix: fast retrieval of sequence features from generic TAB-delimited files
- (2011) H. Li BIOINFORMATICS
- Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
- (2011) Luyan Liu et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Recurrent bacterial meningitis by three different pathogens in an isolated asplenic child
- (2011) Yoshiko Uchida et al. JOURNAL OF INFECTION AND CHEMOTHERAPY
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- The Structure of the Eukaryotic Ribosome at 3.0 A Resolution
- (2011) A. Ben-Shem et al. SCIENCE
- Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency
- (2010) Alexandre Bolze et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diamond Blackfan anemia 2008–2009: broadening the scope of ribosome biogenesis disorders
- (2010) Jeffrey M Lipton et al. CURRENT OPINION IN PEDIATRICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits
- (2010) Marie-Françoise O’Donohue et al. JOURNAL OF CELL BIOLOGY
- Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
- (2010) Minji Byun et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases
- (2010) Nizar Mahlaoui et al. JOURNAL OF PEDIATRICS
- Extraribosomal functions associated with the C terminus of the 37/67 kDa laminin receptor are required for maintaining cell viability
- (2010) J Scheiman et al. Cell Death & Disease
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Familial isolated congenital asplenia: case report and literature review
- (2009) Syed Ather Ahmed et al. EUROPEAN JOURNAL OF PEDIATRICS
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Comparative analysis of processed ribosomal protein pseudogenes in four mammalian genomes
- (2009) Suganthi Balasubramanian et al. GENOME BIOLOGY
- Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
- (2008) Hanna T. Gazda et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now