Need, Anna C <br/><br/>
Clinical application of exome sequencing in undiagnosed genetic conditions.  [electronic resource] 

 -  Journal of medical genetics  Jun 2012 
 - 353-61 p.  digital 
<br/><br/> 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 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-100819  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Basic Helix-Loop-Helix Leucine Zipper Transcription Factors--genetics<br/>Child<br/>Child, Preschool<br/>Exome<br/>Female<br/>Genetic Diseases, Inborn--diagnosis<br/>Humans<br/>Infant<br/>Male<br/>Models, Genetic<br/>Molecular Diagnostic Techniques--methods<br/>Mutation<br/>NAV1.2 Voltage-Gated Sodium Channel--genetics<br/>Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase--genetics<br/>Sequence Analysis, DNA--methods<br/>Smad4 Protein--genetics<br/>Transcription Factor 4<br/>Transcription Factors--genetics