Search

Affiner

Par type de contenu

Par thématique

Par mot clé

Reset

2317 résultats correspondant à votre recherche

  • Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

    Jean-Laurent CASANOVA

    Source :

    J. Clin. Invest.

    2019 sep 16

    Pmid / DOI:

    30395541

  • Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

    Jean-Laurent CASANOVA

    Source :

    Cell

    2019 jan 21

    Pmid / DOI:

    29474921

  • An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation.

    Laurent Abel

    Source :

    Sci Rep

    2019 juil 3

    Pmid / DOI:

    28993696

  • Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

    Aurélie Cobat

    Source :

    PLoS Genet.

    2017 sep 13

    Pmid / DOI:

    28793313

  • Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

    Jean-Laurent CASANOVA

    Source :

    Am. J. Med. Genet. A

    2019 nov 20

    Pmid / DOI:

    28488400

  • Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

    Jean-Laurent CASANOVA

    Source :

    J. Am. Coll. Cardiol.

    2017 juil 10

    Pmid / DOI:

    28359509

  • A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

    Alexandre Alcaïs

    Source :

    PLoS Genet.

    2017 mai 26

    Pmid / DOI:

    28222097

  • Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients.

    Aurélie Cobat

    Source :

    Antimicrob. Agents Chemother.

    2017 sep 26

    Pmid / DOI:

    27956420

  • A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

    Laurent Abel

    Source :

    Hepatology

    2017 juil 31

    Pmid / DOI:

    27339598

  • Exome and genome sequencing for inborn errors of immunity.

    Jean-Laurent CASANOVA

    Source :

    J. Allergy Clin. Immunol.

    2017 juil 5

    Pmid / DOI:

    27720020

  • BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease.

    Laurent Abel

    Source :

    Oncotarget

    2019 nov 20

    Pmid / DOI:

    28968953

  • Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

    Jacinta Bustamante

    Source :

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

    2017 jan 26

    Pmid / DOI:

    27247391