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2187 résultats correspondant à votre recherche

  • Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

    Laurent Abel , Aurélie Cobat, Emmanuelle Jouanguy, Jean-Laurent CASANOVA

    Source :

    Front Genet

    2019 nov 26

    Pmid / DOI:

    31749832

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

    Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

    Source :

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

    2019 nov 8

    Pmid / DOI:

    31484767

  • Prevalence and risk factors for latent tuberculosis infection among healthcare workers in Morocco.

    Laurent Abel , Aurélie Cobat, Jocelyn Quistrebert

    Source :

    PLoS ONE

    2019 aoû 18

    Pmid / DOI:

    31415649

  • A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

    Jean-Laurent CASANOVA

    Source :

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

    2019 aoû 20

    Pmid / DOI:

    31346092

  • Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

    Laurent Abel , Aurélie Cobat, Alexandre Alcaïs

    Source :

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

    2019 aoû 8

    Pmid / DOI:

    31308240

  • Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

    Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

    Source :

    J. Exp. Med.

    2019 déc 9

    Pmid / DOI:

    31270247

  • Severe influenza pneumonitis in children with inherited TLR3 deficiency.

    Jean-Laurent CASANOVA

    Source :

    J. Exp. Med.

    2019 nov 8

    Pmid / DOI:

    31217193

  • Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

    Michel Polak, Athanasia Stoupa

    Source :

    Lancet Diabetes Endocrinol

    2019 aoû 23

    Pmid / DOI:

    31377265

  • Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

    Michel Polak, Jacques Beltrand

    Source :

    Pediatr Diabetes

    2019 oct 28

    Pmid / DOI:

    30684309

  • Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

    Michel Polak, Jacques Beltrand

    Source :

    Lancet Diabetes Endocrinol

    2019 juin 11

    Pmid / DOI:

    29880308

  • Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

    Aurore Carre, Athanasia Stoupa, Michel Polak

    Source :

    Thyroid

    2019 mar 21

    Pmid / DOI:

    29790453

  • Mutations in BOREALIN cause thyroid dysgenesis.

    Michel Polak, Aurore Carre, Athanasia Stoupa, Dulanjalee Kariyawasam

    Source :

    Hum. Mol. Genet.

    2017 sep 15

    Pmid / DOI:

    28025328