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Mutations in Splicing Factor Genes

Showing 1 - 25 of >10,000
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Acute Myeloid Leukemia, MDS, Chronic Myelomonocytic Leukemia Trial in United States (E7820)

Recruiting
  • Acute Myeloid Leukemia
  • +2 more
  • Miami, Florida
  • +6 more
Apr 25, 2022

Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome Trial in France

Not yet recruiting
  • Taybi Linder Syndrome
  • +3 more
  • Blood samples
  • +2 more
  • Bordeaux, France
  • +5 more
Oct 26, 2023

Development of Targeted RNA-Seq for Amyotrophic Lateral

Not yet recruiting
  • Amyotrophic Lateral Sclerosis
  • RNA sequencing
  • Bordeaux, France
  • +6 more
Oct 9, 2023

MDS, Myelodysplastic Anemia, Myelodysplastic Syndrome With Isolated Del(5Q) Trial (description of MDS pzatient cohort)

Recruiting
  • Myelodysplastic Syndromes
  • +5 more
  • description of MDS pzatient cohort
  • Brest, France
    Chu Brest
Oct 27, 2022

Advanced NSCLC, EGFR Mutation, HER2 Mutation Trial in Worldwide (BAY2927088_formulation A, BAY2927088_formulation B_1,

Recruiting
  • Advanced Non-small Cell Lung Cancer
  • +2 more
  • BAY2927088_formulation A
  • +2 more
  • Gilbert, Arizona
  • +75 more
Jan 16, 2023

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

Myotonic Dystrophy 1 Trial in Paris (Haemostasis tests, Monocytes and megacaryocytes culture and RNA extraction, RNA extraction)

Recruiting
  • Myotonic Dystrophy 1
  • Haemostasis tests
  • +2 more
  • Paris, Ile De France, France
    Service de Cardiologie - Hôpital Cochin
Nov 19, 2021

Based on KEAP1/NFE2L2 Mutations and Pre-therapeutic FDG-PET/CT

Recruiting
  • Lung Cancer Stage III
  • Lung Cancer Stage IV
    • Brest, France
      Chu Brest
    Aug 16, 2023

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

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

    Cystic Fibrosis, CFTR Gene Mutation Trial in Montpellier (Nasal cells sampling, Rectal biopsy sampling)

    Recruiting
    • Cystic Fibrosis
    • CFTR Gene Mutation
    • Nasal cells sampling
    • Rectal biopsy sampling
    • Montpellier, France
      Montpellier University Hospital
    Mar 31, 2022

    SMN Circular RNAs as Potential New Targets and Biomarkers for

    Recruiting
    • Spinal Muscular Atrophy
      • Rome, Italy
        Policlinico gemelli
      Feb 27, 2023

      Hereditary Hemorrhagic Telangiectasia Trial in Essen (hypoxic induced factors)

      Recruiting
      • Hereditary Hemorrhagic Telangiectasia
      • hypoxic induced factors
      • Essen, NRW, Germany
        University Hospital Essen
      Mar 21, 2022

      Associated With Colorectal Cancer

      Not yet recruiting
      • Colorectal Neoplasms
      • Assessment of smoking ,heavy metal, organophosphorus exposure and d) Mutational analysis of the KRAS and BRAF genes:
      • (no location specified)
      Dec 18, 2021

      New Genetic Mutations in Thromboembolic Venous Disease

      Completed
      • Thromboembolic Venous Disease
      • Genetic sample
      • Brest, France
        CHRU de Brest
      Mar 3, 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

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

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

      NSCLC Trial (Furmonertinib)

      Not yet recruiting
      • Non-Small Cell Lung Cancer
      • (no location specified)
      Aug 10, 2023

      Duchenne Muscular Dystrophy With Small Mutations

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

      Solid Tumor Trial in Worldwide (BDTX-189)

      Terminated
      • Solid Tumor
      • Scottsdale, Arizona
      • +37 more
      Oct 13, 2022

      Chemotherapy-Related Complications

      Recruiting
      • Lymphoma
      • Chemotherapeutic Toxicity
      • Blood test for determination of CHIP
      • Toronto, Ontario, Canada
        Sunnybrook Health Sciences Centre
      Aug 3, 2022

      Mitochondrial Dysfunctions Driving Insulin Resistance

      Recruiting
      • Mitochondrial Myopathies
      • +2 more
        • Copenhagen, Denmark
          Rigshospitalet
        Oct 16, 2023

        Focal Cortical Dysplasia, Epilepsy Trial in London (Blood and nasal swab sampling)

        Recruiting
        • Focal Cortical Dysplasia
        • Epilepsy
        • Blood and nasal swab sampling
        • London, United Kingdom
          King's College Hospital
        Sep 18, 2023

        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

        Malignant Tumor Trial in Ann Arbor, Columbus (ponatinib HCl, laboratory biomarker analysis)

        Unknown status
        • Malignant Neoplasm
        • ponatinib hydrochloride
        • laboratory biomarker analysis
        • Ann Arbor, Michigan
        • +1 more
        Feb 14, 2020

        Treatment in Carriers of Rare Germline Mutations

        Recruiting
        • Prostate Cancer
          • Sutton, Surrey, United Kingdom
            Institute of Cancer Research and Royal Marsden Hospital
          Mar 30, 2022