about
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.Quantifying the contribution of recessive coding variation to developmental disordersSET de novo frameshift variants associated with developmental delay and intellectual disabilitiesExpanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaDe novo variants in CNOT3 cause a variable neurodevelopmental disorder
P50
description
investigador
@es
researcher
@en
name
Miranda Splitt
@en
type
label
Miranda Splitt
@en
prefLabel
Miranda Splitt
@en
P31
P496
0000-0002-8906-7580