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    • ERN-ITHACA Patients Representatives
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    • Documentation for patients & families
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    • Educational Resources
    • Online Genetics Course APOGeE
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    • Phelan-McDermid Guideline
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    • Survival guide to genetics
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Home > For Clinicians > 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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