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Phenotype-genotype correlation

Showing 1 - 25 of 9,027
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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

Improvement of DIAgnostic and Phenotype-genotype Correlation

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

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

      DCP (RaDiCo Cohort) (RaDiCo-DCP)

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

        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

          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

            Genetics of Central Nervous System Arteriovenous Malformations

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

            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

                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

                      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