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Genetic diagnosis

Showing 1 - 25 of >10,000
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Genetic Diagnosis in Congenital Cataracts

Completed
  • Congenital Cataract
  • Ophthalmic examination
  • Whole-exome sequencing
  • Guangzhou, Guangdong, China
    Zhongshan Ophthalmic Center, Sun Yat-sen University
Mar 12, 2023

Technology Development for Noninvasive Prenatal Genetic

Recruiting
  • Copy Number Abnormality
  • +2 more
  • Whole Fetal Cell (WFC) Testing
  • New York, New York
  • +1 more
Nov 3, 2022

Isolation of Cell Free Fetal DNA From Spent Culture Medium and

Completed
  • Females Undergoing PGD Technology for Medical Conditions
  • Preimplantation Genetic Screening
  • Damascus, Syrian Arab Republic
    Damascus University
Oct 17, 2023

Early Infant Epilepsy, Paraclinical and Therapeutic Management,

Not yet recruiting
  • Early Infant Epilepsy
  • Questionnaires
  • Strasbourg, France
    Service de Génétique Médicale IGMA - Hôpitaux Universitaires de
Aug 11, 2022

Prenatal Genetic Diagnosis by Genomic Sequencing

Recruiting
  • Fetal Structural Anomalies
  • Prenatal Genomic Sequencing
  • New York, New York
  • +4 more
Oct 20, 2022

Key Diagnosis and Treatment Technology of Genetic and Metabolic

Not yet recruiting
  • Diagnosis ， Treatment， Genetic and Metabolic Liver Disease
  • There is no intervention
  • (no location specified)
Oct 27, 2022

Molecular Aspects of Preimplantation Genetic Diagnosis for NF1

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

    Neurogenetic Disorders Trial in Pittsburgh

    Recruiting
    • Neurogenetic Disorders
      • Pittsburgh, Pennsylvania
        Children's Hospital of Pittsburgh of UPMC
      Jul 5, 2022

      Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy

      Recruiting
      • Epilepsy
        • Boston, Massachusetts
        • +3 more
        Oct 11, 2023

        Effect of HBA or HBB Genetic Defects on Early Embryonic

        Completed
        • Thalassemia,Embryonic Development,Reproductive Sterility and Infertility
        • Preimplantation genetic diagnosis
        • Changsha, Hunan, China
          Reproductive & Genetic Hospital of CITIC-XIANGYA
        Jan 10, 2022

        Human Growth Hormone Treatment in Small for Gestational Age

        Not yet recruiting
        • Small for Gestational Age Infant
        • +2 more
        • Blood collection for genetic analysis
        • (no location specified)
        Sep 27, 2021

        Pregnancy Related Trial in Houston (Redraw for analysis of blood samples from healthy pregnant women)

        Completed
        • Pregnancy Related
        • Redraw for analysis of blood samples from healthy pregnant women
        • Houston, Texas
          Luna Genetics
        Jan 25, 2022

        Acute Myeloid Leukemia At Initial Diagnosis and/or Relapse in

        Not yet recruiting
        • Acute Myeloid Leukemia
        • Genetic Predisposition to Disease
        • Collection of blood sample of bone marrow (cohort 1)
        • Collection of blood sample of bone marrow (cohort 2 and 3)
        • (no location specified)
        Mar 6, 2023

        Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease Trial in Duluth (Motivational interview (MI))

        Recruiting
        • Familial Hypercholesterolemia
        • +2 more
        • Motivational interview (MI)
        • Duluth, Minnesota
        • +1 more
        Feb 1, 2023

        Prenatal Diagnoses, Preimplantation Genetic Diagnosis Trial in Aalborg (Cell-based non-invasive prenatal testing)

        Recruiting
        • Prenatal Diagnoses
        • Preimplantation Genetic Diagnosis
        • Cell-based non-invasive prenatal testing
        • Aalborg, Denmark
          Fertility Unit, Aalborg University Hospital
        Feb 17, 2022

        Molecular Diagnosis of Systemic Autoinflammatory Diseases

        Not yet recruiting
        • Inflammatory Disease
        • +4 more
          • Paris, France
            Trousseau Hospital
          May 23, 2022

          Development ofSoftware Tool, Using Artificial Intelligence, That

          Recruiting
          • Bipolar Disorder
          • Unipolar Depression
            • Milano, MI, Italy
              IRCCS San Raffaele Institute
            Apr 5, 2023

            Prostate Cancer Trial (Multiparameric MRI with injection)

            Not yet recruiting
            • Prostate Cancer
            • Multiparameric MRI with injection
            • (no location specified)
            May 12, 2022

            Exosome for Early Diagnosis of Bipolar Affective Disorder

            Not yet recruiting
            • Bipolar Affective Disorder
            • Major Depressive Disorder
              • Tianjin, China
                Tianjin Anding Hospital
              Jun 13, 2023

              Chromosome Translocation, Genetic Disorders in Pregnancy, Recurrent Miscarriage Trial in Kaohsiung (NGS)

              Enrolling by invitation
              • Chromosome Translocation
              • +2 more
              • NGS
              • Kaohsiung, Taiwan
                Chang Gung Memorial Hospital
              Jan 26, 2022

              Autosomal Recessive Cerebellar Ataxia Trial in France (Genetic diagnosis (PMDA panel), Use of RADIAL algorithm)

              Recruiting
              • Autosomal Recessive Cerebellar Ataxia
              • Genetic diagnosis (PMDA panel)
              • Use of RADIAL algorithm
              • Besançon, France
              • +7 more
              Oct 14, 2021

              Prenatal Screening, Pregnancy Related, Genetic Disease Trial in Milan (Cell-based non-invasive prenatal testing)

              Recruiting
              • Prenatal Screening
              • +2 more
              • Cell-based non-invasive prenatal testing
              • Milan, Italy
                Fondazione IRCCS Ca' Granda-Policlinico di Milano Ospedale Maggi
              Dec 20, 2022

              Associated With Diagnosis and Severity of Bradykinin Angioedema

              Recruiting
              • Angio Edema
              • Biobanking
              • Lille, France
                Hop Claude Huriez Chu Lille
              Apr 4, 2022

              Usefulness of Continuous Glucose Monitoring in MODY Diagnosis

              Not yet recruiting
              • Type 1 Diabetes
              • MODY
              • Intermittenly scanned continuous glucose monitoring
              • MODY genetic diagnostic test
              • Alcázar De San Juan, Ciudad Real, Spain
              • +8 more
              Jun 15, 2023

              Embolism in COVID-19 Positive Patients

              Enrolling by invitation
              • COVID-19 Pneumonia
              • +2 more
                • Ankara, Cankaya, Turkey
                  INTERGEN Genetics and Rare Diseases Diagnosis Research & Applica
                Feb 14, 2022