1.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
by Li, Zejuan
Journal of human genetics, 2015-07, Vol.60 (7), p.363-369
2.
Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency
by Moretti, Paolo
Journal of autism and developmental disorders, 2007-11-20, Vol.38 (6), p.1170-1177
3.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
by del Gaudio, Daniela
Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
