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Mosaicism

Showing 1 - 25 of 56
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Somatic Mosaicism in Twins Discordant for Childhood Cancer

Not yet recruiting
  • Pediatric Central Nervous System Tumor
  • +3 more
  • Biospecimen collection
  • Questionnaire Administration
  • (no location specified)
Sep 19, 2023

Focal Cortical Dysplasia, Epilepsy Trial in London (Blood and nasal swab sampling)

Recruiting
  • Focal Cortical Dysplasia
  • Epilepsy
  • Blood and nasal swab sampling
  • London, United Kingdom
    King's College Hospital
Sep 18, 2023

Implications of Maternal 45,X Mosaicism asSecondary Genomic

Not yet recruiting
  • Cardiovascular Phenotype
  • +4 more
    • Bethesda, Maryland
      National Institutes of Health Clinical Center
    Feb 2, 2023

    Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome Trial in Boston (Data and Specimen Collection)

    Recruiting
    • Li-Fraumeni Syndrome
    • +4 more
    • Data and Specimen Collection
    • Boston, Massachusetts
    • +2 more
    Jan 23, 2023

    Aneuploidy, Mosaicism Trial in Sunnyvale (Non-euploid embryo transfer, Euploid Transfer)

    Recruiting
    • Aneuploidy
    • Mosaicism
    • Non-euploid embryo transfer
    • Euploid Transfer
    • Sunnyvale, California
      Stanford Fertility and Reproductive Medicine Center
    Jan 27, 2022

    Characterize Metzker Pigmentary Disorders

    Completed
    • Pigment Dispersion
    • Mosaicism
      • Montpellier, France
        Uh Montpellier
      Jul 7, 2021

      Health, Fitness, and Quality of Life in Adolescent Girls With

      Completed
      • Turner Syndrome
      • +3 more
      • No intervention
      • Aurora, Colorado
        Children's Hospital Colorado
      Apr 29, 2021

      Trophectoderm Biopsies

      Completed
      • Aneuploidy
      • Chromosome Abnormality
      • PGT-A
      • Florence, Italy
      • +2 more
      Oct 13, 2020

      Health and Neurodevelopment in Infants and Young Sex Chromosome

      Recruiting
      • Klinefelter Syndrome
      • +11 more
      • Assessments of Development and Growth
      • Aurora, Colorado
      • +1 more
      Jan 6, 2022

      Developmental Disorders Trial in Rouen (genome-wide analyses, Search for de novo mutations in paternal sperm samples)

      Unknown status
      • Developmental Disorders
      • genome-wide analyses
      • Search for de novo mutations in paternal sperm samples
      • Rouen, France
        Rouen University Hospital
      Sep 21, 2020

      Infertility, Aneuploidy Rate, Mosaicism Trial in Cairo (Single step media, Sequential media)

      Unknown status
      • Infertility
      • +2 more
      • Single step media
      • Sequential media
      • Cairo, Egypt
        Ganin Fertility Center
      Jul 22, 2020

      Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

      Not yet recruiting
      • PIK3CA-related Overgrowth Spectrum
      • +8 more
      • national registry
      • Paris, France
        Translational medicine and Targeted therapies unit, Hôpital Neck
      Sep 28, 2022

      Infertility Trial (ICSI)

      Not yet recruiting
      • Infertility
      • ICSI
      • (no location specified)
      Sep 16, 2022

      Fertility Disorders, Turner Syndrome, Premature Ovarian Failure Trial in Aarhus (laparoscopic cryopreservation of one ovary)

      Recruiting
      • Fertility Disorders
      • +2 more
      • laparoscopic cryopreservation of one ovary
      • Aarhus, Denmark
        Mette Viuff
      Feb 13, 2023

      Molecular Aspects of Preimplantation Genetic Diagnosis for NF1

      Recruiting
      • Neurofibromatosis Type 1
        • Strasbourg, France
          Service Laboratoire de Diagnostic Génétique - Hôpitaux Universit
        Nov 24, 2021

        Fanconi Anemia Trial in Madrid (Eltrombopag)

        Completed
        • Fanconi Anemia
        • Madrid, Spain
          Hospital Infantil Universitario Niño Jesús (HIUNJ)
        Sep 20, 2023

        Neurocutaneous Syndromes in Upper Egypt Children

        Not yet recruiting
        • Neurocutaneous Syndromes
          • (no location specified)
          Sep 10, 2023

          Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal

          Recruiting
          • Fabry Disease
            • Minneapolis, Minnesota
            • +1 more
            Sep 16, 2022

            Premature Birth Trial in Milan (Early Intervention)

            Active, not recruiting
            • Premature Birth
            • Early Intervention
            • Milan, Italy
              NICU, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico
            Feb 2, 2023

            Aneuploidy, Infertility Trial in Abu Dhabi (media refreshment, embryo grading)

            Recruiting
            • Aneuploidy
            • Infertility
            • media refreshment
            • embryo grading
            • Abu Dhabi, United Arab Emirates
            • +1 more
            Feb 17, 2022

            Pyruvate Dehydrogenase Complex Deficiency Disease Trial in Pittsburgh (No intervention)

            Recruiting
            • Pyruvate Dehydrogenase Complex Deficiency Disease
            • No intervention
            • Pittsburgh, Pennsylvania
              University of Pittsburgh
            Mar 21, 2022

            Development of Non-Invasive Prenatal Diagnosis for Single Gene

            Not yet recruiting
            • Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including
            • +14 more
            • Blood sample
            • Paris, France
              Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obs
            Nov 24, 2023

            Celiac Disease Trial in Guayaquil (High-definition white light endoscopy (HD-WLE), HD-WLE plus I-Scan optical enhancement (OE)

            Active, not recruiting
            • Celiac Disease
            • High-definition white light endoscopy (HD-WLE)
            • HD-WLE plus I-Scan optical enhancement (OE) virtual chromoendoscopy with High-definition optical magnification (HD-OM)
            • Guayaquil, Guayas, Ecuador
              Ecuadorian Institute of Digestive Diseases
            Mar 30, 2022

            Precision Medicine for Every Child With Cancer

            Recruiting
            • Childhood Cancer
            • +5 more
            • Whole Genome Sequencing
            • +6 more
            • Adelaide, Australia
            • +8 more
            Jan 24, 2023

            Autosomal Dominant Polycystic Kidney Disease Trial in New York

            Active, not recruiting
            • Autosomal Dominant Polycystic Kidney Disease
              • New York, New York
                Weill Cornell Medicine
              Jul 29, 2021