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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • APOGeE (WG9)
    • European Certificate (WG10)
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    • ILIAD RD register
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    • ERN ITHACA Guidelines
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
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Home > Our Research Activities > List Of Publications > A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

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

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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