rare-diseases

Documents about rare-diseases

• Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients#866132ClinicalTrials.gov
• Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases#859057ClinicalTrials.gov
• Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN#908732ClinicalTrials.gov
• Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).#905885ClinicalTrials.gov
• Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases#899641ClinicalTrials.gov
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing#827963ClinicalTrials.gov
• Personalized Therapy of Patients Suffering From Rare Genodermatoses#911134ClinicalTrials.gov
• Rare Tumours in Children and Adolescents (STEP)#868658ClinicalTrials.gov
• Palliative Care Coaching for Families With Rare Advanced Lung Diseases#912266ClinicalTrials.gov
• Analysis of Muscular Properties in Patients With MFS and EDS#897617ClinicalTrials.gov
• ERN ReCONNET Study on COVID-19 Vaccination in Rare and Complex Connective Tissue Disease (VACCINATE)#907358ClinicalTrials.gov
• Ready to Sail 2: A Pilot Study of Sail-Assisted Telerehabilitation in Rare Skeletal Diseases#905322ClinicalTrials.gov
• Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions#860983ClinicalTrials.gov
• Intractable and rare diseases research in Asia#70198J-STAGE (Japan)
• Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network#212940Europe PMC
• Characterizing trachoma elimination using serology#483704Repositorio Universidad Peruana Cayetano Heredia
• Rare diseases in healthcare priority setting: should rarity matter?#93423PhilArchive
• Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence#847576ClinicalTrials.gov
• UW Undiagnosed Genetic Diseases Program#880208ClinicalTrials.gov
• Stakeholders of Rare Diseases Informing Values In Neuroethics#981918ClinicalTrials.gov
• Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)#831177ClinicalTrials.gov
• Expertise of European Clinical Trial Units in Conducting and Managing Cross-Border Pediatric Clinical Trials for Rare Diseases.#613547PubMed
• Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes#992333ClinicalTrials.gov
• rare-disease-platform#380006Figshare
• FACE for Children With Rare Diseases#894256ClinicalTrials.gov
• Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"#993345ClinicalTrials.gov
• Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases#284715Lume 5.8
• AI Models Could Improve Diagnosis and Care for Rare Diseases.#380762NCBI PubMed Central
• Outcome strategies for clinical trials in Neuropaediatric rare diseases.#399599NCBI PubMed Central
• JAK inhibitors in refractory dermatomyositis: A case series#184969Dipòsit Digital de la Universitat de Barcelona
• Idiopathic Diseases of Man#968155ClinicalTrials.gov
• Prevalence of depressive and anxiety symptoms among patients consulting a rare disease outpatient clinic for rare and undiagnosed diseases in China.#295473NCBI PubMed Central
• Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases#133224bioRxiv / medRxiv
• Nursing's Role in Advancing Care for Rare Genetic Diseases.#247534NCBI PubMed Central
• Transforming clinical trials in rare genetic diseases through telemedicine.#247566NCBI PubMed Central
• Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients#828259ClinicalTrials.gov
• Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases#135511Unpaywall
• The Potential of Digital Twins for Pediatric Rare Diseases.#156924NCBI PubMed Central
• Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland#20059DOAJ
• BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe#356610ClinicalTrials.gov
• Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases#840256ClinicalTrials.gov
• DEVELOPING GENOME EDITING THERAPIES FOR RARE AND ULTRA-RARE METABOLIC DISEASES#929129ScholarlyCommons
• A Research Registry on Aggressive PitNETs#838672ClinicalTrials.gov
• 21 U.S.C. § 360ff-1 — Targeted drugs for rare diseases#577350US Code (LII)
• Automating evaluation of LLM-generated responses to patient questions about rare diseases.#120052NCBI PubMed Central
• Fluoxetine in KCNC1-related Disorder#805565ClinicalTrials.gov
• Structural Chromosome Rearrangements and Brain Disorders#893066ClinicalTrials.gov
• Kidney Information Network for Disease Research and Education#844818ClinicalTrials.gov
• 21 U.S.C. § 360bb — Designation of drugs for rare diseases or conditions#577344US Code (LII)
• 21 U.S.C. § 360cc — Protection for drugs for rare diseases or conditions#577345US Code (LII)