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Fondation Jérôme-Lejeune

FJ

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Publications

239

Citations

14.1K

Authors

31

Location

Paris, France

Fondation Jérôme-Lejeune is a nonprofit institution in Paris, France known for medicine, genetics, and pathology.

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Publications

239

Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes

Emilie Ait‐Yahya, Julie Aubert, Luce Dauphinot et al. · The American Journal of Human Genetics · 2007 · 340 citations · Full text

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Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 330 citations · Full text

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Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial

Rafael de la Torre, Susana Solá, Gimena Hernández et al. · The Lancet Neurology · 2016 · 274 citations · Full text

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Epigallocatechin‐3‐gallate, a DYRK1A inhibitor, rescues cognitive deficits in <scp>D</scp>own syndrome mouse models and in humans

Rafael de la Torre, Susana Solá, Meritxell Pons‐Espinal et al. · Molecular Nutrition & Food Research · 2013 · 270 citations

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

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1–5 of 239

Authors

31

  1. MO
    M O Rethoré

    Fondation Jérôme-Lejeune, France

    80 publications · 2K citations

    23

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  2. AR
    Anne‐Sophie Rebillat

    Fondation Jérôme-Lejeune, France

    53 publications · 6.3K citations

    20

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  3. CM
    Clotilde Mircher

    Fondation Jérôme-Lejeune, France

    55 publications · 6.8K citations

    20

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  4. HB
    Henri Bléhaut

    Fondation Jérôme-Lejeune, France

    34 publications · 2.1K citations

    19

    h-index

  5. AR
    Aimé Ravel

    Fondation Jérôme-Lejeune, France

    57 publications · 959 citations

    14

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1–5 of 31