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    • Spina Bifida & other Dysraphisms (WG13)
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    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
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    • MOOC “bioinformatics”
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    • Documentation for patients
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Home > Our Research Activities > List Of Publications > De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns 
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
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