Kaur, Maninder <br/><br/>
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.  [electronic resource] 

 -  American journal of medical genetics. Part C, Seminars in medical genetics  06 2016 
 - 163-70 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4876 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.c.31495  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins<br/>De Lange Syndrome--diagnosis<br/>Female<br/>Gene Expression Regulation<br/>Humans<br/>Male<br/>Mutation<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Proteins--analysis<br/>Severity of Illness Index