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DYSKERATOSIS CONGENITA Experts

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

DYSKERATOSIS CONGENITA Experts map



If you find this map or researchers for DYSKERATOSIS CONGENITA useful, maybe you will be also interested in other rare diseases proffesionals like our amyotrophic lateral sclerosis expert list ,or our fragile x syndrome expert list

DYSKERATOSIS CONGENITA Experts list

Dr Thierry LEBLANC

 PARIS. FRANCE

  Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry

  • Research area/topic:
    Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
  • Pôle de pédiatrie médicale, CHU Paris - Hôpital Robert Debré
    CHU Paris - Hôpital Robert Debré
    CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
  • thierry********@***p.fr
Complete Info

Pr Nicolas LEULLIOT

 PARIS. FRANCE

  Investigator of research project

  • Research area/topic:
    RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies
  • CNRS UMR 8015, Faculté de médecine Paris-Descartes, Site Necker
  • nicolas.********@***isdescartes.fr
Complete Info

Pr Stephan EHL

 FREIBURG. GERMANY

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

  • Research area/topic:
    A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
  • Universitätsklinikum Freiburg
    CCI am Universitätsklinikum Freiburg
  • steph******@***klinik_freiburg.de
Complete Info

Dr Carsten SPECKMANN

 FREIBURG. GERMANY

  Clinical expert - Investigator of research project

  • Research area/topic:
    A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
  • Universitätsklinikum Freiburg
    CCI am Universitätsklinikum Freiburg
  • carsten.*********@***klinik_freiburg.de
Complete Info

Pr Charlotte NIEMEYER

 FREIBURG. GERMANY

  Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

  • Research area/topic:
    EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
  • Universitätsklinikum Freiburg
    Zentrum für Kinder- und Jugendmedizin Freiburg
  • charlotte*********@***klinik_freiburg.de
Complete Info

Dr Maria Luisa CAYUELA FUENTES

 EL PALMAR, MURCIA. SPAIN

  Investigator of research project

  • Research area/topic:
    Mechanisms involved in hematopoietic alterations and cancer in the dyskeratosis congenita. Search for therapies
  • Hospital Clínico Universitario Virgen de la Arrixaca
    IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
  • marial.*******@***m.es
Complete Info

Dr Maria Luisa CAYUELA FUENTES

 MURCIA. SPAIN

  Investigator of research project

  • Research area/topic:
    Mechanisms involved in hematopoietic alterations and cancer in the dyskeratosis congenita. Search for therapies
  • Hospital Clínico Universitario Virgen de la Arrixaca
    IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
  • marial.*******@***m.es
Complete Info

Dr Federico Vicente PALLARDÓ CALATAYUD

 VALENCIA. SPAIN

  Investigator of research project

  • Research area/topic:
    Epigenetic responses to changes in the nuclear redox environment. Possible therapeutic targets in rare diseases
  • Departamento de Fisiología, Universitat de València. Facultat de Medicina i Odontologia
    INCLIVA
  • federico.**********@***es
Complete Info

Pr Inderjeet DOKAL

 LONDON. UNITED KINGDOM

  Investigator of research project - Head of patient organisation - Director of laboratory - Director of department

  • Research area/topic:
    The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
  • Barts and The London School of Medicine and Dentistry
    Blizard Institute, Barts and The London School of Medicine and Dentistry
    Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry
  • i.d****@***l.ac.uk
Complete Info

Other experts list that you may find interesting:

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