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    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
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    • Documentation for patients
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Home > Our Research Activities > List Of Publications > A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

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Exome sequencing identifies the first genetic determinants of sirenomelia in humans
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient
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