Where I see patients (6)
Selected research
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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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Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.
Neurology. Genetics
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