Records containing: Rare Diseases
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CLINICAL_TRIALS study record update · 2025-09-10Marfan Syndrome: the Impact on the Quality of Life, Phenotypic Manifestations on Self-image and Self-management Skills, as an Index of Adaptation to the Disease in Pediatric Patients
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CLINICAL_TRIALS study record update · 2025-09-10Investigation of the Neurovegetative Pattern in the Adult Population With Thoracic Aortic Aneurysms (AAT)
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CLINICAL_TRIALS study record update · 2025-09-04Studies of Structural Chromosome Rearrangements to Identify Genes Involved in Congenital Brain Disorders
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CLINICAL_TRIALS study record update · 2025-08-29A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
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CLINICAL_TRIALS study record update · 2025-08-20DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders
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CLINICAL_TRIALS study record update · 2025-08-05SLC13A5 Deficiency: A Prospective Natural History Study - United States Only
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CLINICAL_TRIALS study record update · 2025-08-03Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
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CLINICAL_TRIALS study record update · 2025-07-18Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
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CLINICAL_TRIALS study record update · 2025-07-02A Single Patient Trial of Fluoxetine in KCNC1-related Disorder
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CLINICAL_TRIALS study record update · 2025-06-12Evaluation of Safety, Tolerability and Efficacy of Crofelemer Following Multiple Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Participants With Microvillus Inclusion Disease (MVID)
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CLINICAL_TRIALS study record update · 2025-06-10Clinical and Imaging Biomarkers of Audiovestibular Function in Infratentorial Superficial Siderosis
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CLINICAL_TRIALS study record update · 2025-06-08Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (EARLY-FA); Evaluating New Clinical Outcome Assessments in Children With Friedreich Ataxia to Facilitate Clinical Trial Design.
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CLINICAL_TRIALS study record update · 2025-06-04UW Undiagnosed Genetic Diseases Program
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CLINICAL_TRIALS study record update · 2025-05-04Palliative Care Needs of Children With Rare Diseases and Their Families
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CLINICAL_TRIALS study record update · 2025-04-13Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
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CLINICAL_TRIALS study record update · 2025-04-02Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
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CLINICAL_TRIALS study record update · 2025-03-30Genetic Causes of Discrepant Clinic in Monogenic Twins
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CLINICAL_TRIALS study record update · 2025-03-30Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
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CLINICAL_TRIALS study record update · 2025-03-30Diagnostic Value of Exome and Genome Sequencing As Well As Conventional Methods in Rare Diseases and Familial Tumor Syndromes
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CLINICAL_TRIALS study record update · 2025-03-06Safety, Tolerability and Preliminary Efficacy Study of a Single Intrathecal Injection of the Dual Vector AAV-CHD3-R1025W Base Editor for the Treatment of Developmental Disorders Caused by the R1025W Mutation in the CHD3 Gene
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CLINICAL_TRIALS study record update · 2025-01-31PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
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CLINICAL_TRIALS study record update · 2025-01-13Observational Survey on Fatigue Levels in Relation to Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome
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CLINICAL_TRIALS study record update · 2025-01-13Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
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CLINICAL_TRIALS study record update · 2024-12-17Testing the Diagnostic Supremacy of Sequencing-only Approaches in Hematologic Malignancies: an Observational Trial
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CLINICAL_TRIALS study record update · 2024-12-06A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives