De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. [electronic resource]
Producer: 20210528ISSN:- 2373-2873
- Chromosomes, Human, Pair 19
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Facies
- Family
- Female
- Gene Dosage
- Gene Duplication
- Gene Expression Profiling
- Genes, Essential
- Genetic Association Studies -- methods
- Genetic Predisposition to Disease
- Humans
- Male
- Neurodevelopmental Disorders -- diagnosis
- Pedigree
- Phenotype
- RNA, Messenger
- Siblings
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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