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Human Genetics and Inherited Disorders

Showing 1 - 25 of >10,000
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Human Epilepsy Genetics--Neuronal Migration Disorders Study

Recruiting
  • Epilepsy
  • +3 more
    • Boston, Massachusetts
      Boston Children's Hospital, Walsh Laboratory
    Mar 17, 2022

    The Genetics and Functional Basis of Inherited Platelet, White

    Recruiting
    • Glanzmann Thrombasthenia
      • New York, New York
        Rockefeller University Hospital
      Jul 5, 2022

      Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2),

      No longer available
      • Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency
      • +7 more
      • Pittsburgh, Pennsylvania
        University of Pittsburgh Division of Medical Genetics, Children'
      Dec 8, 2021

      PEGylated GH for Treatment of Short Stature in Chinese

      Recruiting
      • Growth Hormone Treatment
      • Growth Disorders
      • Polyethylene glycol recombinant human growth hormone injection
      • Beijing, Beijing, China
        Department of Endocrinology, Genetics, Metabolism
      Sep 12, 2023

      Genetics of Mendelian Diseases in Qatar

      Suspended
      • Mendelian Disorders
        • Doha, Qatar
          Hamad Medical Corporation
        Jan 30, 2023

        Natural History of Severe Allergic Inflammation and Reactions

        Recruiting
        • PGM3 Deficiency
        • +4 more
          • Bethesda, Maryland
            National Institutes of Health Clinical Center
          Jan 24, 2023

          Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder Trial in Boston

          Recruiting
          • Hereditary Spastic Paraplegia
          • +5 more
            • Boston, Massachusetts
              Boston Children's Hospital
            Aug 5, 2022

            Achondroplasia Trial in Worldwide (Recifercept)

            Active, not recruiting
            • Achondroplasia
            • Recifercept
            • Irvine, California
            • +13 more
            Jan 20, 2023

            Thrombocytopenia, Inherited Platelet Disorder Trial in Paris, Rennes (Validation of a new gene / protein variant implicated in

            Enrolling by invitation
            • Thrombocytopenia
            • Inherited Platelet Disorder
            • Validation of a new gene / protein variant implicated in familial CT
            • Paris, France
            • +1 more
            Jul 20, 2020

            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

              Inherited Reproductive Disorders

              Recruiting
              • Genetic Disorder
              • +3 more
                • Bethesda, Maryland
                • +1 more
                Dec 29, 2022

                Phenotype/Genotype Correlations in Movement Disorders

                Recruiting
                • Movement Disorder
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Jan 25, 2023

                  Biomarker Research in Inherited Movement Disorders

                  Recruiting
                  • Inherited Movement Disorders
                  • +2 more
                  • Clinical follow-up
                  • Paris, France
                    Hôpital Pitié Salpetrière
                  Aug 11, 2022

                  Cardiovascular Diseases Trial in Nassau (Human Allogeneic Bone-Marrow-Derived Mesenchymal Stromal Cell Product (StromaForte))

                  Recruiting
                  • Cardiovascular Diseases
                  • Human Allogeneic Bone-Marrow-Derived Mesenchymal Stromal Cell Product (StromaForte)
                  • Nassau, The Bahamas, Bahamas
                    The Partners Clinical Research Centre at The Medical Pavilion
                  Oct 17, 2023

                  Disorders: Genetics and Disease Characteristics

                  Recruiting
                  • Familial Mediterranean Fever (FMF)
                  • +6 more
                    • Bethesda, Maryland
                      National Institutes of Health Clinical Center
                    Jan 21, 2023

                    Strabismus, Congenital Cranial Dysinnervation Disorders, and

                    Recruiting
                    • Congenital Fibrosis of Extraocular Muscles
                    • +25 more
                      • Boston, Massachusetts
                        Boston Children's Hospital
                      Sep 23, 2022

                      Genetic Causes of Kallmann Syndrome and Reproductive Disorders

                      Completed
                      • Hypogonadotropic Hypogonadism
                      • +4 more
                        • Boston, Massachusetts
                          Massachusetts General Hospital
                        Jun 29, 2022

                        Genetics Syndrome, Ehlers-Danlos Syndrome Trial in Boston (Genotyping)

                        Active, not recruiting
                        • Genetics Syndrome
                        • Ehlers-Danlos Syndrome
                        • Genotyping
                        • Boston, Massachusetts
                          Boston Medical Center
                        Oct 21, 2022

                        Study of Inherited Neurological Disorders

                        Recruiting
                        • Motor Neuron Disease
                        • +3 more
                          • Bethesda, Maryland
                            National Institutes of Health Clinical Center
                          Jan 26, 2023

                          LCA5 Trial (AAV8.hLCA5)

                          Not yet recruiting
                          • LCA5
                          • AAV8.hLCA5
                          • (no location specified)
                          Nov 22, 2022

                          Pompe Disease Trial in Worldwide (ATB200, AT2221)

                          Active, not recruiting
                          • Pompe Disease
                          • Phoenix, Arizona
                          • +18 more
                          Oct 19, 2021

                          Fragile X Syndrome Trial in Worldwide (ZYN002 - transdermal gel, Placebo)

                          Recruiting
                          • Fragile X Syndrome
                          • ZYN002 - transdermal gel
                          • Placebo
                          • Sacramento, California
                          • +24 more
                          Aug 16, 2022

                          Mitochondrial Diseases, Bone Remodeling Disorder Trial in Aalborg (Clinical assessment, blood samples, bone marrow and bone

                          Recruiting
                          • Mitochondrial Diseases
                          • Bone Remodeling Disorder
                          • Clinical assessment, blood samples, bone marrow and bone biopsy
                          • Aalborg, Denmark
                            Dept. of Clinical Genetics
                          Aug 16, 2022

                          Hyperferritinemia Candidate Gene

                          Recruiting
                          • Hyperferritinemia
                          • Genetic analysis
                          • Monza, MB, Italy
                            Centre for Rare Disease - Disorders of Iron Metabolism, ASST-Mon
                          Jan 17, 2023

                          Families With Inherited Eye Disease

                          Recruiting
                          • Inherited Eye Disease
                            • La Jolla, California
                            • +5 more
                            Aug 20, 2022