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genetic diseases and dysmorphic syndromes

Showing 1 - 25 of >10,000
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Exome/ Genome Sequencing, Conventional Methods in Rare Diseases

Recruiting
  • Rare Diseases
  • Genetic Predisposition
  • Retrospective data analysis
  • Tübingen, Germany
    University Hospital Tübingen
Nov 3, 2022

Ethnic Backgrounds on Facial Dysmorphic Features of Rare

Not yet recruiting
  • Rare Diseases
  • Take photo
  • (no location specified)
Jun 13, 2023

Genetic Analysis of Immune Disorders

Recruiting
  • DOK 8
  • +4 more
    • Bethesda, Maryland
      National Institutes of Health Clinical Center
    Jan 27, 2023

    Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell

    Recruiting
    • Primary Immune Deficiency
      • Bethesda, Maryland
      • +6 more
      Feb 2, 2023

      Genetic Predisposition to Disease, Breast Cancer Female, Ovarian Cancer Trial in Philadelphia (Sequential EHR Communications)

      Not yet recruiting
      • Genetic Predisposition to Disease
      • +6 more
      • Sequential EHR Communications
      • Philadelphia, Pennsylvania
        Abramson Cancer Center of the University of Pennsylvania
      Feb 8, 2023

      Allergy and Immunology Natural History Study

      Recruiting
      • Immune Deficiency
      • +2 more
        • New York, New York
          Columbia University Irving Medical Center / NewYork-Presbyterian
        Oct 14, 2022

        Neurological Immune-related Adverse Events

        Recruiting
        • Neurological Disease
        • Analysis of biomarkers and their correlation with clinical characteristics and outcome
        • Bron, France
          Centre de référence des syndromes neurologiques paranéoplasiques
        Jul 28, 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

          Suppurative Lung Disease in Children and Adults

          Recruiting
          • Primary Ciliary Dyskinesia
          • +2 more
          • Genetic Testing for PCD or PID
          • Unaffected Family Member Genetic Testing
          • Palo Alto, California
          • +7 more
          Mar 30, 2022

          Overlap FGIDs and Genetic Polymorphism

          Completed
          • Functional Gastrointestinal Disorders
          • Overlap Syndromes
            • (no location specified)
            Jan 14, 2021

            Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem

            Active, not recruiting
            • Hematologic Malignancies
            • +7 more
            • San Francisco, California
              University of California, San Francisco
            Feb 28, 2022

            Immunodeficiency: Search for New Genetic Causes for Primary

            Recruiting
            • Immunologic Deficiency Syndromes
            • blood sampling and skin biopsy
            • +2 more
            • Zurich, ZH, Switzerland
            • +1 more
            Apr 12, 2021

            Genetic Basis of Primary Immunodeficiencies

            Terminated
            • Immunologic Deficiency Syndrome
              • Bethesda, Maryland
                National Institutes of Health Clinical Center, 9000 Rockville Pi
              May 26, 2021

              One-Time DNA Study for Vasculitis

              Recruiting
              • Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss)
              • +5 more
                • Los Angeles, California
                • +13 more
                May 16, 2022

                Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind Trial in Dallas, Madison, London (QR-421a, Sham-procedure)

                Active, not recruiting
                • Retinitis Pigmentosa
                • +7 more
                • Dallas, Texas
                • +2 more
                Apr 21, 2022

                Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome Trial in Bologna

                Recruiting
                • Li-Fraumeni Syndrome
                • Li-Fraumeni-Like Syndrome
                  • Bologna, Emilia Romagna, Italy
                  • +1 more
                  Aug 2, 2022

                  Shwachman-Diamond Syndrome, Shwachman-Diamond Syndrome-Like Trial in Aurora, Boston, Cincinnati

                  Recruiting
                  • Shwachman-Diamond Syndrome
                  • Shwachman-Diamond Syndrome-Like
                    • Aurora, Colorado
                    • +3 more
                    Sep 25, 2023

                    Collecting and Storing Blood Samples From Patients With Cancer

                    Withdrawn
                    • Brain and Central Nervous System Tumors
                    • +10 more
                      • (no location specified)
                      Sep 20, 2021

                      Hereditary Cancer-Predisposing Syndrome Trial in Ann Arbor, Flint, Saginaw (InheRET, Patient Acceptance, Physician Acceptance

                      Enrolling by invitation
                      • Hereditary Cancer-Predisposing Syndrome
                      • InheRET
                      • +2 more
                      • Ann Arbor, Michigan
                      • +3 more
                      Jul 28, 2021

                      Pituitary Tumours: Prevalence of Associated Neoplasia

                      Recruiting
                      • Pituitary Tumor
                      • +4 more
                      • Registration of familial forms and associated neoplasia
                      • Pozzilli, IS, Italy
                        Neuromed
                      Aug 31, 2021

                      Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind Trial in Canada, France, United States (QR-421a, Sham-procedure (dose

                      Completed
                      • Retinitis Pigmentosa
                      • +7 more
                      • QR-421a
                      • Sham-procedure (dose cohort 1&2 only)
                      • Boston, Massachusetts
                      • +6 more
                      Apr 19, 2022

                      Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind Trial in Worldwide (Ultevursen, Sham-procedure)

                      Recruiting
                      • Retinitis Pigmentosa
                      • +7 more
                      • San Diego, California
                      • +14 more
                      Jul 29, 2022

                      Pattern of Metabolic Causes of Neonatal Hypoglycemia

                      Not yet recruiting
                      • Neonatal Hypoglycemia
                      • Metabolic Disease
                        • (no location specified)
                        Jul 24, 2023

                        Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease Trial in Boston

                        Recruiting
                        • Genetic Disease
                        • +4 more
                          • Boston, Massachusetts
                            Boston Children's Hospital
                          Oct 17, 2022

                          Parkinson's Disease; Amyotrophic Lateral Sclerosis; Glioblastoma; Cancer Without Neurological Disease; Rheumatoid Polyarthritis

                          Not yet recruiting
                          • Parkinson's Disease; Amyotrophic Lateral Sclerosis; Glioblastoma; Cancer Without Neurological Disease; Rheumatoid Polyarthritis
                          • Collection of biological sample (blood and/or CSF)
                          • Bron, France
                            Hospices Civils de Lyon
                          Sep 12, 2022