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genotype-phenotype correlation

Showing 1 - 25 of 9,027
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Disorder Osteogenesis Imperfecta and Genotype Phenotype

Recruiting
  • Osteogenesis Imperfecta
  • Short Stature
    • Bethesda, Maryland
      National Institutes of Health Clinical Center
    Dec 30, 2022

    Dystonia Genotype-Phenotype Correlation

    Recruiting
    • Dystonia
    • +21 more
    • Magnetic Resonance Imaging
    • Dallas, Texas
      University of Texas Southwestern Medical Center
    Jun 30, 2022

    Pathogenic Mechanism in Hereditary Ataxia

    Recruiting
    • Hereditary Ataxia
      • Hangzhou, Zhejiang, China
        Second Affiliated Hospital, Zhejiang University School of Medici
      Dec 22, 2021

      Limbal Stem Cell Deficiency of Genetic Origin:

      Recruiting
      • Limbus Corneae
        • Paris, France
          Fondation Ophtalmologique Adolphe de Rothschild
        Dec 17, 2021

        Junctional Epidermolysis Bullosa, Laryngo Onycho Cutaneous Syndrome Trial in Solihull (No intervention)

        Enrolling by invitation
        • Junctional Epidermolysis Bullosa
        • Laryngo Onycho Cutaneous Syndrome
        • No intervention
        • Solihull, West Midlands, United Kingdom
          Solihull Hospital
        Sep 27, 2021

        Focus on Lung Function in Primary Ciliary Dyskinesia (PCD)

        Recruiting
        • Ciliary Motility Disorders
        • Primary Ciliary Dyskinesia
        • Genetic diagnosis
        • Münster, NRW, Germany
          University Hospital Münster
        Jul 1, 2022

        SLC26A4 in CI Patients With EVA

        Active, not recruiting
        • Sensorineural Hearing Loss
        • Enlarged Vestibular Aqueduct
        • Cochlear implantation
        • (no location specified)
        Jun 21, 2021

        Pustular Psoriasis (PP) Trial in Italy, Singapore, Switzerland (biological sampling, Phenotypic description, Photography)

        Recruiting
        • Pustular Psoriasis (PP)
        • biological sampling
        • +2 more
        • Rome, Italy
        • +3 more
        Jul 5, 2022

        Genetics of Central Nervous System Arteriovenous Malformations

        Recruiting
        • Arteriovenous Malformations
        • blood sample
        • Paris, France
          HOPITAL FONDATION Adolphe de ROTHSCHILD
        Feb 18, 2022

        Genetic Diagnosis in Congenital Cataracts

        Completed
        • Congenital Cataract
        • Ophthalmic examination
        • Whole-exome sequencing
        • Guangzhou, Guangdong, China
          Zhongshan Ophthalmic Center, Sun Yat-sen University
        Mar 12, 2023

        Vestibular Diseases, DFNA9 Trial in Antwerpen

        Recruiting
        • Vestibular Diseases
        • DFNA9
          • Antwerpen, Belgium
            University of Antwerp
          Oct 27, 2021

          Chromosome 9 P Minus Syndrome

          Recruiting
          • Chromosome 9P Deletion Syndrome
          • +4 more
            • Saint Louis, Missouri
              Washington University School of Medicine
            Nov 30, 2021

            Improvement of DIAgnostic and Phenotype-genotype Correlation

            Recruiting
            • Myopathy
            • +2 more
            • Western blot
            • Protein interaction studies
            • Montpellier, France
              CHU Montpellier
            Dec 15, 2021

            DCP (RaDiCo Cohort) (RaDiCo-DCP)

            Recruiting
            • Primary Ciliary Dyskinesia
              • Besançon, France
              • +31 more
              Jul 18, 2023

              Hereditary Thrombotic Thrombocytopenic Purpura

              Recruiting
              • Thrombotic Thrombocytopenic Purpura
              • +4 more
              • Observation
              • Oklahoma City, Oklahoma
              • +6 more
              Nov 1, 2022

              Duchenne Muscular Dystrophy With Small Mutations

              Recruiting
              • Muscular Dystrophy, Duchenne
              • MUSCLE MAGNETIC RESONANCE IMAGING (MRI)
              • Rome, Italy
                Claudia Brogna
              Apr 17, 2023

              Plaquenil -Induced Retinal Toxicity, With Evaluation of ABCA4

              Recruiting
              • Genotype
              • Retinal Disease
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Jan 27, 2023

                Phenotype/Genotype Correlations in Movement Disorders

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

                  DM1 Patients in China

                  Enrolling by invitation
                  • Myotonic Dystrophy 1
                  • Brain MRI scan
                  • Shanghai, China
                    Huashan Hospital
                  Oct 20, 2023

                  Hereditary Hemorrhagic Telangiectasia, HHT, Rendu Osler Weber Disease Trial in Madrid (Registry)

                  Recruiting
                  • Hereditary Hemorrhagic Telangiectasia
                  • +2 more
                  • Registry
                  • Madrid, Spain
                    Hospital Universitario Ramón y Cajal
                  Sep 30, 2022

                  Depressive Disorder, Major, Bipolar Disorder, Psychotic Disorders Trial in Nashville

                  Enrolling by invitation
                  • Depressive Disorder, Major
                  • +2 more
                    • Nashville, Tennessee
                      Vanderbilt University Medical Center
                    Dec 23, 2022

                    Determine Mutations in Gaucher Gene in Idiopathic Parkinson's

                    Completed
                    • Parkinson Disease
                    • Idiopathic Parkinson Disease
                      • Bad Neustadt An Der Saale, Germany
                      • +14 more
                      Apr 8, 2021

                      Glioblastoma Trial in Roma (Blood sample)

                      Recruiting
                      • Glioblastoma
                      • Blood sample
                      • Roma, Italy
                        Fondazione Policlinico Universitaro "A. Gemelli" IRCCS
                      Mar 29, 2023

                      Fuchs' Corneal Endothelial Dystrophy in France

                      Not yet recruiting
                      • Corneal Dystrophies
                      • Genotyping
                      • +2 more
                      • Saint-Étienne, France
                        Centre Hospitalier de Saint-Etienne
                      Feb 22, 2023

                      Phenotype, Genotype and Biomarkers 2

                      Recruiting
                      • Amyotrophic Lateral Sclerosis
                      • +4 more
                        • Miami, Florida
                        • +3 more
                        Dec 19, 2022