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Home > Our Research Activities > List Of Publications > NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns 

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns 

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A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
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