Huisman, Sylvia <br/><br/>
Phenotypes and genotypes in individuals with SMC1A variants.  [electronic resource] 

 -  American journal of medical genetics. Part A  Aug 2017 
 - 2108-2125 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.38279  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Cell Cycle Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Chromosomal Proteins, Non-Histone--genetics<br/>De Lange Syndrome--diagnosis<br/>Exome--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Middle Aged<br/>Netherlands--epidemiology<br/>Proteins--genetics<br/>Rett Syndrome--diagnosis<br/>Spasms, Infantile--diagnosis<br/>Young Adult<br/>Structural Maintenance of Chromosome Protein 1