about
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disabilityHuman RAD50 deficiency: Confirmation of a distinctive phenotypeEML1-associated brain overgrowth syndrome with ribbon-like heterotopia
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Grazia M S Mancini
@en
Grazia M S Mancini
@nl
type
label
Grazia M S Mancini
@en
Grazia M S Mancini
@nl
prefLabel
Grazia M S Mancini
@en
Grazia M S Mancini
@nl
P31
P496
0000-0002-1211-9979