Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. [electronic resource]
Producer: 20160613Description: 33 p. digitalISSN:- 1479-7364
- Child
- Child, Preschool
- Cohort Studies
- Databases, Genetic
- Exome
- Female
- Gene Library
- Genetic Diseases, Inborn -- diagnosis
- Genetic Predisposition to Disease
- Genome, Human
- Genomics
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Diagnostic Techniques -- methods
- Mutation
- Polymorphism, Single Nucleotide
- Sensitivity and Specificity
- Sequence Alignment
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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