Talkowski, Michael E <br/><br/>
Clinical diagnosis by whole-genome sequencing of a prenatal sample.  [electronic resource] 

 -  The New England journal of medicine  Dec 2012 
 - 2226-32 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1533-4406 
<br/><br/><label>Standard No.: </label>10.1056/NEJMoa1208594  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>CHARGE Syndrome--diagnosis<br/>Chromosome Aberrations<br/>Chromosome Disorders--diagnosis<br/>Female<br/>Fetal Diseases--diagnosis<br/>Genetic Testing--methods<br/>Genome, Human<br/>Genomic Library<br/>Heart Defects, Congenital--diagnostic imaging<br/>Humans<br/>Karyotype<br/>Mutation<br/>Oligonucleotide Array Sequence Analysis<br/>Pregnancy<br/>Prenatal Diagnosis--methods<br/>Translocation, Genetic<br/>Ultrasonography, Prenatal