Educational Resources
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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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Syndrome Information Leaflet
Rett Syndrome: Information Leaflet
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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
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Teaching & Training
Williams Beuren Syndrom
In English In French
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ERN-ITHACA Webinar
ERN-ITHACA Webinar: Joint Webinar on Down Syndrome
Pr Damien Sanlaville (ERN ITHACA), Service de génétique, Hôpital Femme Mère Enfant, Lyon (FR), will provide an introduction to the topic. Following this, Dr Bruno Ranchin (ERN ERKNet), Pediatric Nephrology Department, Hôpital Femme Mère Enfant, Lyon (FR), will give an overview of the nephrological aspects of the syndrome. Dr Giovanni Mosiello (ERN eUROGEN and WG leader of SBoD ERN ITHACA), Pediatric Urologist, Ospedale Pediatrico […]
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ERN-ITHACA Webinar
Joint webinar: Williams-Beuren Syndrome, A focus on long-term patient care