2214 résultats correspondant à votre recherche

  • Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

    Benedetta RUZZENENTE, Lucas BIANCHI, Arnold Munnich, Agnès Rötig, Metodi METODIEV

    Source :

    Hum. Mol. Genet.

    2020 mar 11

    Pmid / DOI:

    30566640

  • Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

    Manuel SCHIFF, Arnold Munnich, Jean Paul BONNEFONT, Julie STEFFANN, Agnès Rötig, Metodi METODIEV, Benedetta RUZZENENTE

    Source :

    Hum. Mutat.

    2020 jan 8

    Pmid / DOI:

    31680380

  • 20/04 2020

    20/04 2020

  • Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

    Romain Levy, Frédéric Guérin, Despina Moshous, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Bénédicte Neven

    Source :

    Blood Adv

    2020 avr 9

    Pmid / DOI:

    32271897

  • Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

    Meriem Belabed, Mathieu Kurowska, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

    Source :

    Nat Commun

    2020 avr 14

    Pmid / DOI:

    32286311

  • Does Hydroxychloroquine Combat COVID-19? A Timeline of Evidence.

    Source :

    J. Am. Acad. Dermatol.

    2020 avr 13

    Pmid / DOI:

    32283236

  • Laurent Abel
    Laboratoires de recherche
    Laurent Abel