Snijders Blok, Lot <br/><br/>
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.  [electronic resource] 

 -  Nature communications  11 2018 
 - 4619 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/s41467-018-06014-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases<br/>Child, Preschool<br/>Chromatin Assembly and Disassembly<br/>DNA Helicases--genetics<br/>Developmental Disabilities--genetics<br/>Female<br/>Gene Expression<br/>Genotype<br/>HEK293 Cells<br/>Humans<br/>Intellectual Disability--genetics<br/>Language Disorders--genetics<br/>Male<br/>Megalencephaly--genetics<br/>Mi-2 Nucleosome Remodeling and Deacetylase Complex--genetics<br/>Models, Molecular<br/>Mutation, Missense<br/>Neurodevelopmental Disorders--genetics<br/>Phenotype<br/>Protein Domains--genetics<br/>Speech Disorders--genetics<br/>Whole Genome Sequencing