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Home > Our Research Activities > List Of Publications > Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes – in pediatric patients screened with NGS panels
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome
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