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Publications by Elise Schaefer

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics

English

Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)

Journal of Medical Genetics

English