A5039749207- Immunodeficiency and Autoimmune Disorders
- Chronic Lymphocytic Leukemia Research
- Genomic variations and chromosomal abnormalities
- Organic Electronics and Photovoltaics
- Fullerene Chemistry and Applications
- Conducting polymers and applications
Boston Children's Hospital
2020-2021
Old Dominion University
2009
Background 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use patient “self-phenotyping” survey collect data directly patients further characterize the syndrome. Objective This aimed (1) discover self-identified in underrepresented...
<sec> <title>BACKGROUND</title> 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use patient “self-phenotyping” survey collect data directly patients further characterize the syndrome. </sec> <title>OBJECTIVE</title> This aimed (1) discover...