rare-diseases

Documents about rare-diseases

• 21 U.S.C. § 360cc — Protection for drugs for rare diseases or conditions#577345US Code (LII)
• Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.#866227ClinicalTrials.gov
• Ethical management in the constitution of a European database for leukodystrophies rare diseases.#296960HAL Science
• Genetic counselors’ perspectives on perceived patient barriers to access and reimbursement for whole exome and genome sequencing in rare diseases#359008RUcore, Rutgers University Community Repository
• Screening of Lysosomal Storage Disorders Diseases in Minority Groups#800906ClinicalTrials.gov
• Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review.#326957NCBI PubMed Central
• NLP4RARE-NER#367026e-cienciaDatos Dataverse OAI Archive
• Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations#783058Zenodo (CERN)
• Self-questionnaire in Osteoporosis#861466ClinicalTrials.gov
• 21 U.S.C. § 360ff — Priority review to encourage treatments for rare pediatric diseases#577349US Code (LII)
• WITHDRAWN: Parents' Experiences of Navigating Diagnostic Uncertainty in Children With Rare Diseases: A Narrative Inquiry#10150bioRxiv / medRxiv
• From data to drug: the translational impact of RaDaR, the UK national registry of rare kidney diseases.#148271NCBI PubMed Central
• Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.#399806NCBI PubMed Central
• COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts#274310HAL (France)
• 21 U.S.C. § 360aa — Recommendations for investigations of drugs for rare diseases or conditions#577343US Code (LII)
• 42 U.S.C. § 280g-7b — HHS public-private partnership for rare neurodegenerative diseases#595248US Code (LII)
• Spatiotemporal Dynamics of Dengue Risk in Bangladesh: A GIS Based Approach#624395eScholarship
• Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis#883582ClinicalTrials.gov
• Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis#967212ClinicalTrials.gov
• Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.#440845NCBI PubMed Central
• AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints.#222931NCBI PubMed Central
• Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.#409504NCBI PubMed Central
• Stepwise Diagnostic Evaluation of Chinese Large Language Models: Comparative Study of Common and Rare Diseases.#437193NCBI PubMed Central
• Machine Learning, Large Language Models, and Multimodal AI for Diagnosing Pediatric Rare Diseases: Scoping Review.#610507NCBI PubMed Central
• Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders#849766ClinicalTrials.gov
• Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases#916638ClinicalTrials.gov
• 21 U.S.C. § 360dd — Open protocols for investigations of drugs for rare diseases or conditions#577346US Code (LII)
• CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction#813786ClinicalTrials.gov
• Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study#297905ScholarlyCommons at Penn
• Study of Ibuprofen to Preserve Lung Function in Patients With Cystic Fibrosis#894953ClinicalTrials.gov
• Genetic Analysis of Uncommon Disease Presentations in Non-US Populations#904149ClinicalTrials.gov
• A brief introduction to China's new Drug Administration Law and its impact on medications for rare diseases#22444J-STAGE (Japan)
• Bridging Rare to Common Diseases: Precision Medicine and the Transforming Landscape of Pediatric Allergy and Immunology.#305098NCBI PubMed Central
• A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.#479305NCBI PubMed Central
• Challenges in the care of rare vascular liver diseases: Insights from patients, health care providers, and patient organizations#665105HAL (France)
• Pilot Study of Familial Nonsyndromal Mondini Dysplasia#828515ClinicalTrials.gov
• Drug Rediscovery for Rare Immune Mediated Inflammatory Diseases#873352ClinicalTrials.gov
• The Diagnosis of Hereditary Angioedema: Family Caregivers’ Experiences#948688Repositorio de Universidad Autónoma de Chile.
• Drug Repurposing for Rare Diseases#976506OpenAlex
• 21 U.S.C. § 360ee — Grants and contracts for development of drugs for rare diseases and conditions#577347US Code (LII)
• Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)#887775ClinicalTrials.gov
• Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995#912452ClinicalTrials.gov
• Structural basis for STAT2 suppression by flavivirus NS5#634732eScholarship
• Interaction of chikungunya virus glycoproteins with macrophage factors controls virion production#642134eScholarship
• A brief introduction to China's new Drug Administration Law and its impact on medications for rare diseases#24042CiNii
• Policy lessons regarding medical security for rare diseases inChina: Insights from Zhejiang Province through the multiplestreams framework.#244418NCBI PubMed Central
• Biobanks and Their Contribution to the Field of Rare Diseases: Current Landscape, Challenges, and Future Directions#383271Zenodo (CERN)
• Genetic Variants of Peroxisome Proliferator-Activated Receptor δ Are Associated with Gastric Cancer#780446eScholarship
• Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis#284365HAL (France)
• Challenges of the oral cancer burden in India.#379773Apollo