Pfundt, Rolph <br/><br/>
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  06 2017 
 - 667-675 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>10.1038/gim.2016.163  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cohort Studies<br/>DNA Copy Number Variations<br/>Exome<br/>Genetic Diseases, Inborn--genetics<br/>Genome, Human<br/>Humans<br/>Inheritance Patterns<br/>Male<br/>Polymorphism, Single Nucleotide<br/>Whole Genome Sequencing