Webinars
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ERN-ITHACA Webinar
In-Depth Webinar #19 Rho-GTPase in intellectual disability and neurodevelopmental disorders
This webinar focused on elucidating neurodevelopmental disorders caused by deleterious variants in the human RAC1 and RAC3 genes, including intellectual disability, autism spectrum disorders and epilepsy. These genes encode proteins that are crucial for brain development by regulating cell signalling pathways involved in neuronal migration, differentiation and synaptic function. Program: Rho family GTPases: key players […]
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ERN-ITHACA Webinar
ERN ITHACA Webinar #16 The Genetics of Angelman Syndrome Unravel
You can consult HERE the webinar’s powerpoint.
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ERN-ITHACA Webinar
ERN-ITHACA Webinar 14 on Innovation in newborn screening in Europe – part 2
Program Welcome and Introduction, by Pr. Laurence Faivre, Centre de Génétique, Dijon (France) Topic 1 – Presentation of 4 European genomic NGS pilot projects in Europe Topic 2 – The Rare Barometer survey on the opinion of people living with a rare disease on NBS, by Jessie Dubief, Social Research Director, EURORDIS Webinar recordings Main recording starting from […]
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ERN-ITHACA Webinar
ERN-ITHACA Webinar #13: Non-invasive Fetal Autopsy
Dowload the webinar’s powerpoint HERE.
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ERN-ITHACA Webinar
ERN ITHACA Webinar 10 “Incidental and secondary findings from exome/genome sequencing”
Download the webinar’s powerpoint HERE.
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ERN-ITHACA Webinar
ERN-ITHACA Webinar #9 “ITHACA Guidelines from start to Finish: An overview of the...
Download HERE the webinar’s powerpoint.
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ERN-ITHACA Webinar
ERN-ITHACA Webinar 8 “Fetal surgery for omen dysraphisms”
Download HERE the webinar’s powerpoint.
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ERN-ITHACA Webinar
Webinar 7: Speaking or not speaking, epilepsy or not epilepsy: is Rett syndrome a...
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ERN-ITHACA Webinar
Webinar #6 Inovation in Newborn Screening
Download the powerpoint presentation here.
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ERN-ITHACA Webinar
Webinar #5: “Guidelines development: from patients to guidelines and back”
Program of the webinar