Clinical application of exome sequencing in undiagnosed genetic conditions. [electronic resource]
Producer: 20130104Description: 353-61 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors -- genetics
- Child
- Child, Preschool
- Exome
- Female
- Genetic Diseases, Inborn -- diagnosis
- Humans
- Infant
- Male
- Models, Genetic
- Molecular Diagnostic Techniques -- methods
- Mutation
- NAV1.2 Voltage-Gated Sodium Channel -- genetics
- Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase -- genetics
- Sequence Analysis, DNA -- methods
- Smad4 Protein -- genetics
- Transcription Factor 4
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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