The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
出版年份 2016 全文链接
标题
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 92, Issue 1, Pages 80-85
出版商
Wiley
发表日期
2016-05-17
DOI
10.1111/cge.12804
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。- A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children
- (2015) Sophie Beale et al. HEALTH TECHNOLOGY ASSESSMENT
- Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
- (2015) Aziz Belkadi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy
- (2015) Korcan Demir et al. Journal of Clinical Research in Pediatric Endocrinology
- Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience
- (2015) C. Alexander Valencia et al. Frontiers in Pediatrics
- Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes
- (2014) Carlos J. Gallego et al. Contemporary Clinical Trials
- Osteopetrosis: genetics, treatment and new insights into osteoclast function
- (2013) Cristina Sobacchi et al. Nature Reviews Endocrinology
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Next-generation sequencing for disorders of low and high bone mineral density
- (2013) G. Sule et al. OSTEOPOROSIS INTERNATIONAL
- Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
- (2012) P. M. Campeau et al. HUMAN MOLECULAR GENETICS
- AnSNX10mutation causes malignant osteopetrosis of infancy
- (2012) Memet Aker et al. JOURNAL OF MEDICAL GENETICS
- RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations
- (2011) Alessandra Pangrazio et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect
- (2009) Elena A Bliznetz et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exome sequencing makes medical genomics a reality
- (2009) Leslie G Biesecker NATURE GENETICS
- Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
- (2008) Matteo M. Guerrini et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetics, pathogenesis and complications of osteopetrosis
- (2007) Andrea Del Fattore et al. BONE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started