Résultat de recherche

Search

Refine

Par type de contenu

Par thématique

Par mot clé

Reset

1853 results found for your search

  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

    Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Sandrine Marlin, Chris Gordon

    Source :

    J. Med. Genet.

    2013 Jun 13

    Pmid / DOI:

    23188108

  • Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

    Jeanne Amiel

    Source :

    Nat. Genet.

    2011 Nov 21

    Pmid / DOI:

    21892160

  • Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

    Jeanne Amiel

    Source :

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

    2009 Oct 8

    Pmid / DOI:

    19666486

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Stanislas Lyonnet, Sabina Benko, Jeanne Amiel, Sophie Thomas, Anna Pelet, Chris Gordon

    Source :

    Nat. Genet.

    2009 Apr 2

    Pmid / DOI:

    19234473

  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

    Jeanne Amiel

    Source :

    Nature

    2008 Nov 18

    Pmid / DOI:

    18923523

  • Annarita Miccio dans son laboratoire

    Research Acceleration

      Portrait
      Hematology

    Annarita Miccio: Gene therapy as a common thread

  • Overall Survival with Ribociclib plus Fulvestrant in Advanced Breast Cancer.

    Source :

    N. Engl. J. Med.

    2019 Dec 11

    Pmid / DOI:

    31826360

  • Imagine Institute

    Public Contract

  • Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

    Jean-Laurent CASANOVA

    Source :

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

    2019 Nov 8

    Pmid / DOI:

    31484767

  • Chronic inflammation in the etiology of disease across the life span.

    Source :

    Nat. Med.

    2019 Dec 6

    Pmid / DOI:

    31806905

  • Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

    Jean-Laurent CASANOVA

    Source :

    J. Exp. Med.

    2017 Oct 6

    Pmid / DOI:

    28606988

  • Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.

    Jean-Laurent CASANOVA , Laurent Abel

    Source :

    Nat. Med.

    2019 Dec 6

    Pmid / DOI:

    31806906