van den Akker, W M R <br/><br/>
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.  [electronic resource] 

 -  Clinical genetics  05 2018 
 - 1000-1007 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13225  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>CDC2 Protein Kinase--genetics<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>Developmental Disabilities--genetics<br/>Exome--genetics<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Middle Aged<br/>Mutation<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Young Adult