Vuorela, Pia <br/><br/>
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  Oct 2007 
 - 690-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1097/gim.0b013e318156e68e  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Helicases--genetics<br/>DNA-Binding Proteins--genetics<br/>Gene Deletion<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Mutation<br/>Polymerase Chain Reaction<br/>Syndrome