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Publications by Véronique Geoffroy
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
Genetics
Exome Sequencing of Bardet–Biedl Syndrome Patient Identifies a Null Mutation in the BBSome subunitBBIP1(BBS18)
Journal of Medical Genetics
Genetics
Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy
Human Mutation
Genetics
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Frontiers in Physiology
Physiology
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
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