Where I see patients (6)
Selected research
-
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
medRxiv : the preprint server for health sciences
-
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.
Neurology. Genetics
-
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Genes
Contact me
Feeling at home
From bedside bingo to therapy dogs, we're here to help kids smile and feel more like themselves.
Visit Child Life services