Educational Resources
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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
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ERN-ITHACA Webinar
ERN-ITHACA Webinar #4 ePAGS
Tuesday June 21st -2022 from 17h -18h30 ERN-ITHACA Webinar #4: “How and why getting involved in ITHACA as an EPAG” Program Welcome and Introduction, and get to know each other Pr Laurence Faivre (Dijon Hospital, FR) Mrs Dorica Dan (Chair Patient Council, RO) Round table short presentation “Short pitch 1mn” Patient engagement & Patient Advocacy […]
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ERN-ITHACA Webinar
ERN-ITHACA Webinar #3 The Solve-RD Program
Program Welcome and Introduction on SOLVE-RD Pr Laurence Faivre (Dijon Hospital, FR) Dr Lisenka Vissers (Radboud university medical center Nijmegen, NL) The impact of SOLVE-RD ClinVar-based reanalysis of unsolved cases from the ERN-ITHACA, Dr Anne-Sophie Denommé-Pichon (Dijon Hospital, FR) Novel gene discovery and functional follow-up RDMM, Dr Elke de Boer Radboud university medical center Nijmegen, […]