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  • Research Acceleration

    From the probability of being born left-handed to Rare Diseases: The Mysteries of Tubulin Beta 4B Variations (TUBB4B)

  • Conf presse 10 ans

    Imagine Institute

    INSTITUT IMAGINE PLACES INTERNATIONAL ATTRACTIVENESS, DATA SCIENCE AND INNOVATIVE TREATMENTS AT THE HEART OF ITS ROADMAP TO 2035

  • Research Acceleration

    The role of dendritic cells in papillomavirus infections: from the FLT3LG gene to therapeutic perspectives

  • Research Acceleration

    Innov4-ePiK: Innovative diagnostic and therapeutic approaches in potassium channel developmental and epileptic encephalopathies (K-DEEs) using 4P for medicine.

  • De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

    Martina Riva, Sofia Ferreira, Yoann Saillour, Vera Medvedeva, Frédéric Causeret, Nadia Bahi-Buisson, Alessandra Pierani

    Source :

    J Clin Invest

    2024 Jul 9

    Pmid / DOI:

    38980724

  • Research Acceleration

    The first inherited TNF deficiency in human underlies susceptibility to tuberculosis

  • Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

    Jean-Michel Rozet, Isabelle Perrault

    Source :

    Science

    2024 Apr 26

    Pmid / DOI:

    38662826

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  • Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

    Isabelle Perrault, Jean-Michel Rozet

    Source :

    Int J Mol Sci

    2024 Jun 3

    Pmid / DOI:

    38892339

  • Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

    Jean-Michel Rozet, Isabelle Perrault

    Source :

    JAMA Ophthalmol

    2022 Dec 1

    Pmid / DOI:

    36264558

  • Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

    Isabelle Perrault, Mohammed ZARHRATE, Jean-Michel Rozet

    Source :

    Genes (Basel)

    2021 Feb 18

    Pmid / DOI:

    33670832

  • Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

    Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet, Isabelle Perrault

    Source :

    Am J Hum Genet

    2020 Jun 4

    Pmid / DOI:

    32470375