Nambot, Sophie <br/><br/>
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  06 2018 
 - 645-654 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.2017.162  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Congenital Abnormalities--genetics<br/>Databases, Genetic<br/>Exome<br/>Genetic Testing--methods<br/>High-Throughput Nucleotide Sequencing--methods<br/>Humans<br/>Intellectual Disability--genetics<br/>Rare Diseases--genetics<br/>Retrospective Studies<br/>Sequence Analysis, DNA--methods<br/>Exome Sequencing--methods