KABUKI SYNDROME Experts

We have collected the completed list of expert related to KABUKI SYNDROME using public data available on different databases.

KABUKI SYNDROME Experts map



If you find this map or researchers for KABUKI SYNDROME useful, maybe you will be also interested in other rare diseases proffesionals like our malaria expert list ,or our frontotemporal dementia; ftd expert list

KABUKI SYNDROME Experts list

Pr Stanislas LYONNET

 PARIS. FRANCE

  Clinical expert - Clinical geneticist - Investigator of research project - Coordinator of research network

  • Research area/topic:
    RSFK: French network of Kabuki syndrome
  • CHU Paris - Hôpital Necker-Enfants Malades
    CHU Paris - Hôpital Necker-Enfants Malades
    CHU Paris - Hôpital Necker-Enfants Malades
  • stanisla*********@***erm.fr
Complete Info

Dr Silke PAULI

 GÖTTINGEN. GERMANY

  Responsible for diagnostic tests - Investigator of research project

  • Research area/topic:
    Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
  • Institut für Humangenetik der Universität Göttingen
  • spa***@***g.de
Complete Info

Dr Laura BERNARDINI

 ROMA. ITALY

  Responsible for diagnostic tests - Investigator of research project

  • Research area/topic:
    Genomic diagnosis and classification of rare disorders with mental retardation using high throughput technologies
  • Istituto CSS-Mendel
  • l.bern******@***_mendel.it
Complete Info

Pr Bruno DALLAPICCOLA

 ROMA. ITALY

  Coordinator of expert centre - Investigator of research project - Coordinator of research network

  • Research area/topic:
    Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
  • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
  • bruno.dal*********@***g.net
Complete Info

Dr Maria Cristina DIGILIO

 ROMA. ITALY

  Coordinator of expert centre - Clinical expert - Investigator of research project

  • Research area/topic:
    Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
  • Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
  • mcristin*********@***g.net
Complete Info

Dr Francesca LEPRI

 ROMA. ITALY

  Responsible for diagnostic tests - Investigator of research project

  • Research area/topic:
    Clinical and molecular characterization of genetic syndromes with congenital heart disease
  • Dipartimento dei Laboratori, IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
  • francescar***********@***g.net
Complete Info

Other experts list that you may find interesting:

All the contact information provided is based on public data available in orpha.net.