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Home > Our Research Activities > List Of Publications > Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

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