Ramos-Brossier, Mariana <br/><br/>
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.  [electronic resource] 

 -  Human molecular genetics  Feb 2015 
 - 1106-18 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddu523  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Humans<br/>Intellectual Disability--genetics<br/>Interleukin-1 Receptor Accessory Protein--chemistry<br/>Introns<br/>Male<br/>Mutation<br/>Neurogenesis--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Protein Interaction Domains and Motifs<br/>Protein Transport<br/>Sequence Deletion<br/>Signal Transduction<br/>Synapses--genetics