Papuc, Sorina M <br/><br/>
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.  [electronic resource] 

 -  European journal of human genetics : EJHG  03 2019 
 - 408-421 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-018-0299-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Copy Number Variations<br/>Epilepsy--diagnosis<br/>Exome<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Infant<br/>Male<br/>Mutation Rate<br/>Exome Sequencing--methods