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Publications by Maura R.Z. Ruzhnikov
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
