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Missense Mutations

Showing 2501 - 2512 of 2,512
STUDY
CONDITIONS
INTERVENTIONS
LOCATIONS
LAST UPDATED

Studies of Hereditary Hemorrhagic Telangiectasia

Completed
  • Telangiectasia, Hereditary Hemorrhagic
    • (no location specified)
    Jun 23, 2005

    Genetic Study of Patients With Primary Ciliary Dyskinesia

    Completed
    • Primary Ciliary Dyskinesia
      • Chapel Hill, North Carolina
        University of North Carolina School of Medicine
      Jun 23, 2005

      Insulin-Like Growth Factor-I Receptor Mutations in Intrauterine

      Unknown status
      • Intrauterine Growth Retardation
        • Atlanta, Georgia
        • +4 more
        Jun 23, 2005

        Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

        Completed
        • Diabetes Insipidus
        • Diabetes Insipidus, Neurohypophyseal
        • Chicago, Illinois
          Northwestern University Medical School
        Jun 23, 2005

        Phenotype and Genotype Correlations in Contiguous Gene Deletion

        Completed
        • Williams Syndrome
        • +6 more
          • Houston, Texas
            Baylor College of Medicine
          Jun 23, 2005

          Genetic and Molecular Defects in Primary Immunodeficiency

          Unknown status
          • X-Linked Agammaglobulinemia
          • +3 more
            • Seattle, Washington
              University of Washington School of Medicine
            Jun 23, 2005

            Studies in Porphyria I: Characterization of Enzyme Defects

            Unknown status
            • Porphyria
              • Galveston, Texas
                University of Texas Medical Branch
              Jun 23, 2005

              HIV Trial in Los Angeles, Brookline (Ritonavir, Nelfinavir mesylate, Saquinavir)

              Completed
              • HIV Infections
              • Los Angeles, California
              • +1 more
              Jun 23, 2005

              FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native

              Unknown status
              • Systemic Sclerosis
                • Houston, Texas
                  University of Texas- Houston Medical School
                Jun 23, 2005

                (a) Candidate Gene(s) for Tooth Disorders

                Unknown status
                • Anodontia
                  • Chapel Hill, North Carolina
                    University of North Carolina at Chapel Hill
                  Jun 23, 2005

                  Cytomegalovirus Infections Trial in St. Louis (ganciclovir)

                  Unknown status
                  • Cytomegalovirus Infections
                  • St. Louis, Missouri
                    Infectious Diseases Division
                  Jun 23, 2005

                  Biological Significance of the Bloom's Syndrome Protein

                  Completed
                  • Bloom Syndrome
                    • New York, New York
                      New York Hospital-Cornell Medical Center
                    Jun 23, 2005