Documentation for patients
-
Syndrome Information Leaflet
Rett Syndrome: Information Leaflet
-
Teaching & Training
Williams Beuren Syndrom
In English In French
-
EuroDysmorpho Talk
“Genome architecture: the 16p11.2 rearrangements” by Pr Alexandre Reymond
-
EuroDysmorpho Talk
“Angelman Syndrome: Past and Present” by Pr Jill Clayton-Smith
-
EuroDysmorpho Talk
“Genetic & Epigenetic Control of Limb Development and its Anomalies” by Pr Florence...
-
EuroDysmorpho Talk
Eurodysmorpho 2021 Bekim Sadikovic : Fundamental phenotypes in Mendelian neurodevelopmental disorder
Epigenetic signatures in syndromesFundamental phenotypes in Mendelian neurodevelopmental disorder Presented by Bekim Sadikovik, PhD London Health Sciences Centre – UK EuroDysmorpho, 2021. Online 31st Edition
-
Teaching & Training
Rare Disease Diagnosis series – Genetic Origin
Step 1 Introduction Step 2 The Questionning Patient/Parents Step 3 Family History Step 4 Personal Medical History Step 5 Clinical Examination & Phenotyping Step 6 Paraclinical Examination Step 7 Proposal of Genetic Testing Step 8 Results of Genetics Testing
-
Teaching & Training
Intellectual Disability and Scientific Research: From Diagnosis to Treatment
How and why should we examine the intellectual disability causes? Défiscience – Filière Nationale de Santé : Maladies Rares du Développement cérébral et Déficience Intellectuelle : https://www.defiscience.fr/filiere/ AnDDI-Rares – Filière Nationale de santé : Filière de Santé Anomalies du Développement avec ou sans Déficience Intellectuelle de causes Rares : http://AnDDi-RaresAnDDI-Rares FAI²R– Filière Nationale de santé […]
-
Teaching & Training
Défigame Trailer
Made for any professionals who must assist in the identification and guidance of patients suspected of neurodevelopmental disorders. It is a real training tool based on real clinical cases, with validated materials such as medical reports, quizzes and resources to complete the training. It takes 1 hour of learning per situation, or 3 hours to […]
-
Teaching & Training
Understanding Chromosomal Translocation – Reciprocal Translocation v1.2
A short animation explaining reciprocial chromosomal translocation Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children’s Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children’s University Hospital, Temple Street. Dr Sally Ann Lynch, Consultant Clinical Geneticist, Author of these videos is a member of the […]