Trujillano, Daniel <br/><br/>
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.  [electronic resource] 

 -  European journal of human genetics : EJHG  02 2017 
 - 176-182 p.  digital 
<br/><br/> Publication Type: Evaluation Study; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2016.146  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Exome<br/>Female<br/>Flavoproteins--genetics<br/>Genetic Testing--methods<br/>Genotyping Techniques--methods<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Middle Aged<br/>Mitochondrial Proteins--genetics<br/>NAV1.3 Voltage-Gated Sodium Channel--genetics<br/>Nuclear Family<br/>Phenotype<br/>Potassium Channels--genetics<br/>Protein Tyrosine Phosphatases, Non-Receptor--genetics<br/>Protoporphyrinogen Oxidase--genetics<br/>Sequence Analysis, DNA--methods<br/>Sodium Channels--genetics<br/>Voltage-Gated Sodium Channel beta-1 Subunit--genetics