Zatz, Mayana <br/><br/>
Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.  [electronic resource] 

 -  Neuromolecular medicine  Dec 2012 
 - 281-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1559-1174 
<br/><br/><label>Standard No.: </label>10.1007/s12017-012-8186-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Asymptomatic Diseases<br/>Biological Specimen Banks<br/>Biopsy<br/>Causality<br/>Child<br/>Child Behavior Disorders--genetics<br/>Chromosomes, Human, X--genetics<br/>Cognition Disorders--genetics<br/>Coloboma--genetics<br/>Comparative Genomic Hybridization<br/>DNA--genetics<br/>Dystrophin--genetics<br/>Exons--genetics<br/>Facies<br/>Female<br/>Genetic Variation--genetics<br/>Hearing Loss, Bilateral--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Incidental Findings<br/>Male<br/>Middle Aged<br/>Muscle, Skeletal--pathology<br/>Pedigree<br/>Sequence Deletion