Webinaires
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Webinaire ERN-ITHACA
Syndrome de Noonan
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Webinaire ERN-ITHACA
ERN-ITHACA Webinar “With the patient in the middle: focus on the whole family...
You can consult here the webinar’s powerpoint.
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Webinaire ERN-ITHACA
Webinaire ERN-ITHACA sur le diagnostic et la prise en charge du syndrome de Coffin-Siris associé au gène ARID1B
Coffin-Siris syndrome (CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. Since the discovery of mutations in ARID1B, a component of the BAF chromatin remodelling complex, as the main cause of the syndrome, our knowledge on diagnosis, natural history and management […]
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Webinaire ERN-ITHACA
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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Webinaire ERN-ITHACA
ERN ITHACA Webinar #16 The Genetics of Angelman Syndrome Unravel
You can consult HERE the webinar’s powerpoint.
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Webinaire ERN-ITHACA
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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Webinaire ERN-ITHACA
Webinaire ERN-ITHACA #13 : Autopsie fœtale non invasive
Dowload the webinar’s powerpoint HERE.
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Webinaire ERN-ITHACA
Webinaire ERN ITHACA n° 10 “ Résultats fortuits et secondaires issus du séquençage de l'exome/du génome ”
Download the webinar’s powerpoint HERE.
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Webinaire ERN-ITHACA
ERN-ITHACA Webinar #9 “ITHACA Guidelines from start to Finish: An overview of the...
Download HERE the webinar’s powerpoint.
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Webinaire ERN-ITHACA
Webinaire ERN-ITHACA n° 8 “ Chirurgie fœtale dans les cas de dysraphismes oméaux ”
Download HERE the webinar’s powerpoint.