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Missense Mutations

Showing 26 - 50 of 2,512
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Tuberous Sclerosis, Lymphangioleiomyomatosis Trial in Canada, United States (procedure, genetic, other)

Recruiting
  • Tuberous Sclerosis
  • Lymphangioleiomyomatosis
  • Phlebotomy
  • +3 more
  • Birmingham, Alabama
  • +22 more
Jan 6, 2023

Central Sensitization in Familial Mediterranean Fever (FMF)

Recruiting
  • Familial Mediterranean Fever
  • Central Sensitisation
  • Central Sensitization Inventory
  • +6 more
  • Sinop, Turkey
    Feyza Nur Yücel
Jan 3, 2022

Mitochondrial DNA and Nuclear SNPs to Predict Severity of

Recruiting
  • Covid19
    • Athens, Greece
    • +3 more
    Jul 11, 2022

    Hyperferritinemia Candidate Gene

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

    Malignant Solid Tumor, Recurrent Adrenal Gland Pheochromocytoma, Recurrent Ectomesenchymoma Trial in Puerto Rico, United States

    Recruiting
    • Malignant Solid Neoplasm
    • +40 more
    • Biospecimen Collection
    • +6 more
    • Birmingham, Alabama
    • +172 more
    Jan 27, 2023

    Study on Biomarkers for Early Diagnosis of Alzheimer's Disease

    Recruiting
    • Alzheimer Disease
      • Beijing, Beijing, China
        Xuanwu Hospital of Capital Medical University
      Mar 8, 2022

      Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)

      Completed
      • Hypophosphatasia
        • Würzburg, Germany
          Universität Würzburg - Klinische Studieneinheit, Orthopädische K
        Dec 28, 2021

        Indian Children With Acute Lymphoblastic Leukemia

        Not yet recruiting
        • ALL, Childhood
        • +7 more
          • New Delhi, India
          • +1 more
          Aug 22, 2022

          Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney Trial in

          Not yet recruiting
          • Atypical Hemolytic Uremic Syndrome
          • +3 more
          • Skin biopsy
          • Ranica, BG, Italy
            Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Da
          Aug 9, 2023

          Diagnosis and Treatment Management of Rare Neurological Disease

          Withdrawn
          • Xlsma
          • +3 more
            • Shanghai, China
              Children's Hospital of Fudan University
            Aug 4, 2021

            NSCLC (NSCLC) Trial (MK-2870, Docetaxel, Pemetrexed)

            Not yet recruiting
            • Non-small Cell Lung Cancer (NSCLC)
            • MK-2870
            • +2 more
            • (no location specified)
            Oct 3, 2023

            Pediatric Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations

            Not yet recruiting
            • Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)
            • +2 more
              • (no location specified)
              Aug 25, 2023

              Effort Test asTherapeutic Monitoring Tool in Acute

              Completed
              • Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
              • Effort test
              • Functional tests on fibroblasts
              • Paris, France
                Hôpital Necker-Enfants Malades
              Oct 10, 2022

              Improvement of DIAgnostic and Phenotype-genotype Correlation

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

              Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations Trial in

              Recruiting
              • Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
              • Canton, Ohio
                Gabrail Cancer and Research Center
              Jul 21, 2023

              NSCLC Trial (Durvalumab, Tremelimumab, Pemetrexed)

              Not yet recruiting
              • Carcinoma, Non-Small-Cell Lung
              • (no location specified)
              Aug 17, 2023

              Sodium Channel Mutations in Anterior Cutaneous Nerve Entrapment

              Not yet recruiting
              • Anterior Cutaneous Nerve Entrapment Syndrome
              • +2 more
              • Sodium channel mutation
              • Veldhoven, Netherlands
                Maxima Medical Center
              May 26, 2023

              Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy

              Enrolling by invitation
              • Amyotrophic Lateral Sclerosis
              • +9 more
                • Worcester, Massachusetts
                  University of Massachusetts Medical School
                May 16, 2022

                Alzheimer, Familial Alzheimer (FAD) Trial in China

                Recruiting
                • Alzheimer Disease
                • Familial Alzheimer Disease (FAD)
                  • Hefei, Anhui, China
                  • +64 more
                  May 29, 2022

                  Resistance-associated Mutations in Metastatic Lung Cancer

                  Recruiting
                  • Lung Cancer
                  • Liquid biopsy
                  • Monza, MB, Italy
                    Fondazione IRCCS San Gerardo dei Tintori
                  Oct 10, 2023

                  Diffuse Glioma, Recurrent Astrocytoma, IDH-Mutant, Grade 4, Recurrent Glioblastoma, IDH-Wildtype Trial in Puerto Rico, United

                  Recruiting
                  • Diffuse Glioma
                  • +3 more
                  • Ipilimumab
                  • Nivolumab
                  • Anchorage, Alaska
                  • +390 more
                  Jan 28, 2023

                  Factor VIII Deficiency, Congenital Trial in Indianapolis (Emicizumab)

                  Recruiting
                  • Factor VIII Deficiency, Congenital
                  • Indianapolis, Indiana
                    Indiana Hemophila @Thrombosis Center
                  Oct 6, 2021

                  Core Binding Factor Acute Myeloid Leukemia, KIT Mutation-Related Tumors Trial in Suzhou (Avapritinib)

                  Recruiting
                  • Core Binding Factor Acute Myeloid Leukemia
                  • KIT Mutation-Related Tumors
                  • Suzhou, Jiangsu, China
                    First Affiliated Hospital of Soochow University
                  Apr 7, 2023

                  Clinical Implications for NSCLC Patients With Rare Mutations

                  Recruiting
                  • NSCLC
                  • +2 more
                    • Shanghai, Shanghai, China
                    • +1 more
                    Jan 18, 2023

                    Type 3 Von Willebrand International Registries Inhibitor

                    Active, not recruiting
                    Has Results
                    • Type 3 Von Willebrand's Disease
                    • Von Willebrand Factor
                    • Helsinki, Finland
                    • +24 more
                    Mar 21, 2022