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  • Activite de laboratoire

    Research Acceleration

      Immunology
      Genetics

    Discovery of a genetic defect at the origin of fulminant hepatitis A

  • Michel Polak
    Laboratoires Associés
    Michel Polak

  • New Publication

    emmanuel lefevre, Admin LMC, Benjamin Couderc

    Source :

    Pmid / DOI:

    32551464

  • Equipe_JMRozet

    Research Acceleration

    Discovery of the origin of a new rare eye disease and consequences for the management of visually impaired children

  • Sabrina Mechaussier

    Research Acceleration

    Sabrina Méchaussier, rewarded at the biggest European meeting of genetics

  • signature cérébrale

    Care

      Neurodevelopment

    Shy? Outgoing? And if we had a brain signature for our level of sociability?

  • chercheuse-labo

    Research Acceleration

    The origin of an inherited antibody immunodeficiency first described 56 years ago finally discovered!

  • From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

    Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

    Source :

    J. Pediatr.

    2020 May 15

    Pmid / DOI:

    32423680

  • A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Warehouse

    Nicolas Garcelon, Hassan Faour, Arnold Munnich

    Source :

    Journal of biomedical informatics

    2018 Mar 1

    Pmid / DOI:

    29501921

  • Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinical Data Warehouse

    Nicolas Garcelon, Hassan Faour

    Source :

    Orphanet journal of rare diseases

    2018 May 31

    Pmid / DOI:

    29855327

  • En-tête pages équipes

    Research Acceleration

      Immunology
      Genetics

    1% of cases of tuberculosis in Europe would be because of a specific genetic predisposition

  • Finding Patients Using Similarity Measures in a Rare Diseases-Oriented Clinical Data Warehouse: Dr. Warehouse and the Needle in the Needle Stack

    Nicolas Garcelon

    Source :

    Journal of biomedical informatics

    2017 Sep 1

    Pmid / DOI:

    28754522