ERN ITHACA PARTNERSHIP

8th European Course in Clinical Dysmorphology & Eurodysmoclub “What I know Best”

The Course What I Know Best aims to give participants upgrades & overviews (genetic basis, diagnostic criteria, guide lines & info about natural history) about some rare genetic deseases, selected by the scientific committee, recently identified conditions included, consisting of intellectual disabilities, epileptic encephalopathies and neuropsychiatric disorders.

The Eurodysmoclub represents a unique opportunity to bring to the attention of worldwide experts the discussion about scientifically interesting clinical case.

2020 October 2 : Please Find below Tjitske Kleefstra, MD, PhD Marcella Zollino, MD, PhD Yuri Zarate, MD, MBA Judith G.Hall, OC, MD Presentations (video & pdf format)

  • ERNs : Rare Diseases In Europe : Tjitske Kleefstra, MD, PhD
    View the presentation here
  • Pitt-Hopkins syndrome : Marcella Zollino, MD, PhD
    View the presentation here
  • Rare Genetic Syndromes and Psychopathology : Tjitske Kleefstra, MD, PhD
    View the presentation here
  • SATB2-associated syndrome (SAS) phenotypes : Yuri Zarate, MD, MBA
    View the presentation here
  • The Old and the new in ARTHROGRYPOSIS : Judith G.Hall, OC, MD
    View the presentation here

2020 October 3rd : Please Find below Karin Weiss, MD Pr. Jeanne Amiel Elliott H. Sherr, MD, PhD Presentations (video & / pdf format)