Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. [electronic resource]
Producer: 20181213Description: 46 p. digitalISSN:- 1471-2350
- Adolescent
- Amino Acid Transport Systems, Basic -- genetics
- Aminopeptidases -- genetics
- Autism Spectrum Disorder -- diagnosis
- Child
- Child, Preschool
- Cohort Studies
- DNA Copy Number Variations
- Developmental Disabilities -- diagnosis
- Diagnostic Tests, Routine
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases -- genetics
- Female
- Homozygote
- Humans
- Infant
- Intellectual Disability -- diagnosis
- Male
- Microarray Analysis
- Mitochondrial Membrane Transport Proteins
- NADH Dehydrogenase -- genetics
- Neurodevelopmental Disorders -- diagnosis
- Phenotype
- Polymorphism, Single Nucleotide
- Potassium Channels, Voltage-Gated -- genetics
- Sequence Analysis, DNA
- Serine Proteases -- genetics
- Shaker Superfamily of Potassium Channels
- Tripeptidyl-Peptidase 1
- Exome Sequencing
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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