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2187 résultats correspondant à votre recherche

  • PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

    Laurent Abel

    Source :

    Bioinformatics

    2019 oct 23

    Pmid / DOI:

    30535305

  • Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

    Jean-Laurent CASANOVA

    Source :

    J. Clin. Invest.

    2019 déc 9

    Pmid / DOI:

    30422821

  • HCV-Associated Liver Fibrosis and HSD17B13.

    Aurélie Cobat

    Source :

    N. Engl. J. Med.

    2018 nov 8

    Pmid / DOI:

    30403944

  • A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

    Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

    Source :

    Hum. Mol. Genet.

    2019 nov 20

    Pmid / DOI:

    30329057

  • Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

    Jean-Laurent CASANOVA

    Source :

    J. Exp. Med.

    2019 sep 4

    Pmid / DOI:

    30143481

  • Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

    Jean-Laurent CASANOVA

    Source :

    Nat. Immunol.

    2019 mai 22

    Pmid / DOI:

    30127434

  • Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

    Jean-Laurent CASANOVA

    Source :

    Proc. Natl. Acad. Sci. U.S.A.

    2018 aoû 21

    Pmid / DOI:

    30072435

  • The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

    Jean-Laurent CASANOVA

    Source :

    J. Exp. Med.

    2019 sep 4

    Pmid / DOI:

    30068544

  • CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

    Laurent Abel

    Source :

    Front Immunol

    2019 nov 20

    Pmid / DOI:

    29997612

  • A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

    Jacinta Bustamante

    Source :

    J. Clin. Immunol.

    2019 oct 15

    Pmid / DOI:

    29995221

  • Inherited p40phox deficiency differs from classic chronic granulomatous disease.

    Jacinta Bustamante

    Source :

    J. Clin. Invest.

    2019 sep 24

    Pmid / DOI:

    29969437

  • A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

    Jean-Laurent CASANOVA

    Source :

    Sci Immunol

    2019 avr 3

    Pmid / DOI:

    29907691