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Imagine's Offers

The database may not be exhaustive, please do not hesitate to contact us !
  • With temporal bones malformation

    Isolated (SLC26A4)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      SLC26A4

    Therapeutics
    Clinical trials
    Syndromic (FGF3)
    Genotype Phenotype
    • Cohorts

      5 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      FGF3

    Therapeutics
    Clinical trials

    Without temporal bones malformation

    Isolated (LHFPL5, OTOF, GJB2)
    Genotype Phenotype
    • Cohorts

      50 pediatric patient with LHFPL5 mutations

      30 pediatric patient with OTOF mutations

      Patients with GJB2 mutations (please, contact us)

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      LHFPL5

      OTOF

      GJB2

    Therapeutics
    Clinical trials
    Syndromic - Usher syndromes 1, 2, and 3
    Genotype Phenotype
    • Cohorts

      > 100 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc.

    Targets
    Therapeutics
    Clinical trials
    Syndromic - TUBB4B
    Genotype Phenotype
    • Cohorts

      10 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      TUBB4B

    Therapeutics
    Clinical trials
    Syndromic - Heimler syndrome
    Genotype Phenotype
    • Cohorts

      10 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      FDXR

    Therapeutics
    Clinical trials

    Auditory neuropathies

    Isolated (OTOF)
    Genotype Phenotype
    • Cohorts

      30 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      OTOF

    Therapeutics
    Clinical trials
    Syndromic (FDXR)
    Genotype Phenotype
    • Cohorts

      10 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      FDXR

    Therapeutics
    Clinical trials
    With auditory nerve malformations (FGF3)
    Genotype Phenotype
    • Cohorts

      5 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    • Specific targets

      FGF3

    Therapeutics
    Clinical trials
    With auditory nerve malformations (unknown genetic causes)
    Genotype Phenotype
    • Cohorts

      50 pediatric patients

    • TNGS / WES / WGS*

      "Deafness" gene panel

    • Observational trials

      Human and Social Sciences Research: measuring what matters for children, young people and their families; measuring psychologic and social consequences of sensory disabilities; studying childhood-to-adulthood transition; parenting support, etc. 

    Targets
    Therapeutics
    Clinical trials

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