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Missense Mutations

Showing 1 - 25 of 2,512
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Hereditary Diseases, Cholestasis, Intrahepatic Trial (4-Phenylbutyrate)

Not yet recruiting
  • Hereditary Diseases
  • Cholestasis, Intrahepatic
  • (no location specified)
Aug 4, 2022

CDH1 Germline Mutations in Lobular Breast Cancer

Active, not recruiting
  • Lobular Breast Carcinoma
  • CDH1 Gene Inactivation
    • Milan, Italy
      European Institute of Oncology
    Jan 11, 2022

    Polycythemia; Familial, Erythrocytosis; Familial, VHL Gene Mutation Trial (Digoxin)

    Not yet recruiting
    • Polycythemia; Familial
    • +5 more
    • (no location specified)
    Feb 2, 2022

    Leukemia, Myeloid, Acute, MDS, Leukemia, Myelomonocytic, Chronic Trial in Worldwide (H3B-8800 (RVT-2001))

    Recruiting
    • Leukemia, Myeloid, Acute
    • +2 more
    • H3B-8800 (RVT-2001)
    • Stanford, California
    • +26 more
    Mar 23, 2022

    MDS, Acute Myeloid Leukemia, Myeloid Malignancy Trial in Guangzhou (Sodium stibogluconate)

    Recruiting
    • Myelodysplastic Syndromes
    • +5 more
    • Sodium stibogluconate
    • Guangzhou, Guangdong, China
      First Affiliated Hospital of Jinan University
    Jun 5, 2021

    Recurrent Ependymoma, Recurrent Ewing Sarcoma, Recurrent Hepatoblastoma Trial in Puerto Rico, United States (Ivosidenib)

    Recruiting
    • Recurrent Ependymoma
    • +32 more
    • Birmingham, Alabama
    • +173 more
    Jan 27, 2023

    Spontaneous Coronary Artery Dissection (SCAD)

    Enrolling by invitation
    • Spontaneous Coronary Artery Dissection
    • SCAD
      • Rochester, Minnesota
        Mayo Clinic
      Jan 5, 2022

      Genetic Profile in Patients With Aortic Syndrome

      Completed
      • Gene Abnormality
      • Acute Aortic Syndrome
      • genetic analysis
      • Sevilla, Andalucia, Spain
      • +1 more
      Apr 21, 2022

      Colorectal Carcinoma, Ulcerative Colitis Trial in Chicago (Atorvastatin Calcium, Biospecimen Collection, Placebo Administration)

      Recruiting
      • Colorectal Carcinoma
      • Ulcerative Colitis
      • Atorvastatin Calcium
      • +2 more
      • Chicago, Illinois
        Northwestern University
      Feb 10, 2022

      Craniometaphyseal Dysplasia (CMD)

      Recruiting
      • Craniometaphyseal Dysplasia
        • Farmington, Connecticut
          University of Connecticut Health Center
        Jan 24, 2022

        Malignant Solid Tumor, Recurrent Ependymoma, Recurrent Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Trial in Puerto

        Recruiting
        • Malignant Solid Neoplasm
        • +26 more
        • Birmingham, Alabama
        • +121 more
        Aug 24, 2022

        SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)

        Recruiting
        • Ehlers-Danlos Syndrome, Vascular Type
          • Angers, France
          • +16 more
          Jul 26, 2023

          SMARD1, CMT2S Trial in Columbus (Gene Therapy)

          Enrolling by invitation
          • SMARD1
          • CMT2S
          • Gene Therapy
          • Columbus, Ohio
            Nationwide Children's Hospital
          Dec 16, 2021

          Resting and Exercising Body Functioning in Freeman-Sheldon

          Withdrawn
          • Arthrogryposis
          • Craniofacial Abnormalities
          • Lactate, Glucose, and Adenosine Triphosphate Blood Levels
          • +6 more
          • Buckhannon, West Virginia
            Freeman-Sheldon Research Group, Inc. Headquarters
          Jun 1, 2022

          EGFR Gene Mutation, Nonsmall Cell Lung Cancer Trial in Washington, Hackensack (Dasatinib, Osimertinib)

          Active, not recruiting
          • EGFR Gene Mutation
          • Nonsmall Cell Lung Cancer
          • Washington, District of Columbia
          • +1 more
          Jan 9, 2022

          Testing of NBIA Genes: Analysis of Genetic Heterogeneity and

          Completed
          • Neurodegeneration With Brain Iron Accumulation (NBIA)
          • Establishment of mitochondrial markers
          • Sequencing tests
          • Talence, France
            Centre Hospitalier Universitaire de Bordeaux
          Nov 7, 2022

          Urothelial Carcinoma Trial in Italy (Niraparib, Best supportive care)

          Completed
          • Urothelial Carcinoma
          • Alba, Italy
          • +19 more
          May 16, 2022

          Biomarker Development in LGMD2i

          Active, not recruiting
          • Muscular Dystrophies
          • Limb Girdle Muscular Dystrophy
            • Irvine, California
            • +10 more
            Feb 18, 2022

            Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy Trial in Montréal (deoxycytidine and

            Recruiting
            • Mitochondrial Diseases
            • +4 more
            • deoxycytidine and deoxythymidine
            • Montréal, Quebec, Canada
              Research InstituMcGill University Health Centre - Children Hospi
            Jan 26, 2023

            Congenital Central Hypoventilation Syndrome, Congenital Central Hypoventilation, CCHS Trial in United States (NIH Toolbox

            Recruiting
            • Congenital Central Hypoventilation Syndrome
            • +5 more
            • NIH Toolbox Cognition Battery
            • Los Angeles, California
            • +3 more
            Aug 18, 2022

            Genomic Basis of Neurodevelopmental and Brain Outcomes in

            Completed
            • Heart Disease Congenital
            • Exposure of interest: Brain MRI
            • Exposure of interest: neurodevelopmental assessments
            • Los Angeles, California
            • +7 more
            Aug 12, 2020

            Stage III Cutaneous Melanoma AJCC v7, Stage IIIA Cutaneous Melanoma AJCC v7, Stage IIIB Cutaneous Melanoma AJCC v7 Trial in

            Completed
            Has Results
            • Stage III Cutaneous Melanoma AJCC v7
            • +5 more
            • Aldesleukin
            • +4 more
            • Seattle, Washington
              Fred Hutch/University of Washington Cancer Consortium
            Oct 17, 2022

            NSCLC Trial in Charleston (Sotorasib and Tarloxotinib)

            Recruiting
            • Non-Small Cell Lung Cancer
            • Sotorasib and Tarloxotinib
            • Charleston, South Carolina
              Hollings Cancer Center at Medical University of South Carolina
            Mar 28, 2022

            ImplementingNational Biobank of PD With WGS and Functional

            Not yet recruiting
            • Parkinson Disease
            • REM Sleep Behavior Disorder
            • whole genome sequencing
            • Pozzilli, Italy
              IRCCS Neuromed
            Feb 13, 2023

            Retinitis Pigmentosa Trial in Worldwide (N-acetylcysteine, Placebo)

            Not yet recruiting
            • Retinitis Pigmentosa
            • Davis, California
            • +30 more
            Sep 8, 2022