Bonaglia, Maria Clara <br/><br/>
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.  [electronic resource] 

 -  PLoS genetics  Jul 2011 
 - e1002173 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1553-7404 
<br/><br/><label>Standard No.: </label>10.1371/journal.pgen.1002173  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Aged, 80 and over<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosome Disorders--genetics<br/>Chromosomes, Human, Pair 22--genetics<br/>Comparative Genomic Hybridization<br/>Female<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Parents<br/>Ring Chromosomes<br/>Sequence Deletion--genetics<br/>Translocation, Genetic<br/>Young Adult