Bramswig, Nuria C <br/><br/>
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.  [electronic resource] 

 -  Human genetics  02 2017 
 - 179-192 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-016-1743-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Autistic Disorder--diagnosis<br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Child<br/>Cohort Studies<br/>Female<br/>Genetic Variation<br/>Genome, Human<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Karyotyping<br/>Male<br/>Mutation, Missense<br/>Phenotype<br/>Proteolysis<br/>RNA Splicing<br/>Sequence Analysis, DNA<br/>Ubiquitin-Protein Ligases--genetics