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Genetic Diseases, Inborn

Showing 1 - 25 of >10,000
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Newborn Genomics Programme

Not yet recruiting
  • Genetic Disease
  • Newborn Morbidity
  • Genetic testing
  • Auckland, New Zealand
    Auckland City Hospital
Oct 10, 2023

Pre-implantation Genetic Testing for Monogenic Disease: Single

Completed
  • Genetic Disease
  • Aneuploidy
  • Pre-implantation genetic testing
  • (no location specified)
Jun 29, 2023

Genetic Diseases in Infants With Unknown Cause of Death

Active, not recruiting
  • Sudden Infant Death
    • Ankara, Not US Or Canada, Turkey
      Hatice Mutlu
    Sep 23, 2023

    Structural Chromosome Rearrangements and Brain Disorders

    Enrolling by invitation
    • Rare Diseases
    • +2 more
      • Stockholm, Sweden
        Anna Lindstrand
      Oct 2, 2023

      Genetic Disease, Nervous System Diseases Trial (Patient cohort, Control cohort)

      Not yet recruiting
      • Genetic Disease
      • Nervous System Diseases
      • Patient cohort
      • Control cohort
      • (no location specified)
      Sep 15, 2023

      Genetic Disease, Cancer, Cardiovascular Diseases Trial in Philadelphia (private web-portal eHealth disclosure of genetic

      Enrolling by invitation
      • Genetic Disease
      • +2 more
      • private web-portal eHealth disclosure of genetic results
      • eHealth education intervention (web or chatbot)
      • Philadelphia, Pennsylvania
        University of Pennsylvania
      Oct 18, 2023

      Clinical Presentation of Genetic Disorders in Patients Attending

      Not yet recruiting
      • Genetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
        • (no location specified)
        Jun 2, 2023

        Infertility, Genetic Disease, Chromosomal Rearrangement Trial in Hong Kong (microfluidic chip, density gradient centrifugation)

        Not yet recruiting
        • Infertility
        • +3 more
        • microfluidic chip
        • density gradient centrifugation
        • Hong Kong, Hong Kong, China
          Department of Obstetrics and Gynaecology
        Aug 28, 2023

        Obesity, Childhood, Genetic Disease Trial in Houston

        Recruiting
        • Obesity, Childhood
        • Genetic Disease
          • Houston, Texas
            Baylor College of Medicine
          Feb 27, 2023

          Genetic Study of Obstructive Azoospermia

          Recruiting
          • Genetic Disease
            • Guangzhou, Guangdong, China
              107 Yan Jiang Xi Road
            Nov 20, 2022

            Technological Development and Clinical Parallel Testing of PGT-G

            Not yet recruiting
            • Genetic Disease
              • (no location specified)
              Nov 7, 2022

              Cerebral Palsy, Genetic Disease, Developmental Delay Trial in Ljubljana (NGS)

              Completed
              • Cerebral Palsy
              • +3 more
              • NGS
              • Ljubljana, Slovenia
                University Children's Hospital, University Medical Centre Ljublj
              Nov 1, 2022

              Genetic Disease, Genetic Predisposition Trial (Access to Genetic Counselor for answering questions)

              Not yet recruiting
              • Genetic Disease
              • Genetic Predisposition
              • Access to Genetic Counselor for answering questions
              • (no location specified)
              Jan 10, 2023

              Novel Genetic Disorders of the Immune System

              Recruiting
              • PI3KCD
              • +3 more
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Feb 2, 2023

                Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic Trial in Madison (EDG-5506 Tablet, Radiolabeled EDG-5506

                Recruiting
                • Healthy Volunteer
                • +7 more
                • EDG-5506 Tablet
                • +2 more
                • Madison, Wisconsin
                  Labcorp Clinical Research Unit, Inc.
                Feb 7, 2023

                Pediatric Patients With Metabolic or Other Genetic Disorders

                Recruiting
                • Genetic Disorder
                • +4 more
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Jan 28, 2023

                  Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and

                  Recruiting
                  • Granuloma
                  • +4 more
                    • Bethesda, Maryland
                      National Institutes of Health Clinical Center
                    Jan 25, 2023

                    Breast Cancer, Genetic Disease, BRCA2 Mutation Trial (blood sample for BRCA2 mutation detection)

                    Not yet recruiting
                    • Breast Cancer
                    • +2 more
                    • blood sample for BRCA2 mutation detection
                    • (no location specified)
                    Jun 1, 2023

                    Ataxia, Degenerative Disease, Genetic Disease Trial in Saint-Didier-au-Mont-d'Or, Saint-Genis-Laval, Saint-Étienne (PAMPERO

                    Not yet recruiting
                    • Ataxia
                    • +2 more
                    • PAMPERO program
                    • Saint-Didier-au-Mont-d'Or, France
                    • +2 more
                    Oct 17, 2023

                    UW Undiagnosed Genetic Diseases Program

                    Recruiting
                    • Rare Diseases
                    • +2 more
                    • Trio Whole Genome Sequencing and Participant-Specific Research
                    • Madison, Wisconsin
                      University of Wisconsin School of Medicine and Public Health
                    Nov 4, 2022

                    SLC13A5 Deficiency Natural History Study - United States Only

                    Recruiting
                    • Citrate Transporter Deficiency
                    • +9 more
                      • Palo Alto, California
                      • +2 more
                      Nov 17, 2023

                      Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

                      Active, not recruiting
                      • Lung Cancer
                      • +3 more
                      • Data and Specimen Collection
                      • Boston, Massachusetts
                      • +1 more
                      Jan 20, 2023

                      Long Read Genome Sequencing in Patients Suffering From

                      Recruiting
                      • Genetic Disease
                      • +3 more
                        • Nantes, Loire-Atlantique, France
                          Nantes University Hospital
                        Jan 25, 2023

                        Alpha Thalassemia Hemoglobin H Constant Spring, Hemoglobinopathies, Hereditary Diseases Trial in Nanning (RM-004)

                        Recruiting
                        • Alpha Thalassemia Hemoglobin H Constant Spring
                        • +2 more
                        • RM-004
                        • Nanning, Guangxi, China
                          The 923rd Hospital of Joint Logistics Support Force of People's
                        Oct 25, 2023

                        Infant, Newborn, Disease, Genetic Disease Trial in Pittsburgh (Neonate WGS Testing)

                        Enrolling by invitation
                        • Infant, Newborn, Disease
                        • Genetic Disease
                        • Neonate WGS Testing
                        • Pittsburgh, Pennsylvania
                          UPMC Children's Hospital of Pittsburgh
                        Dec 9, 2022