Where I see patients (6)
Selected research
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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
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Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.
Neurology. Genetics
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A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Genes
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