Reijnders, Margot R F <br/><br/>
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.  [electronic resource] 

 -  American journal of human genetics  06 2018 
 - 1195-1203 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2018.04.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Cell Line<br/>Child<br/>Child, Preschool<br/>Facies<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Inheritance Patterns--genetics<br/>Loss of Function Mutation--genetics<br/>Male<br/>Neurodevelopmental Disorders--genetics<br/>Protein Kinases--genetics<br/>RNA, Messenger--genetics<br/>Translocation, Genetic<br/>Young Adult