subject area of
- A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study Academic Article
- ASPECTS OF PATIENT REPORTED OUTCOMES IN RARE DISEASES: A DISCUSSION PAPER Academic Article
- Airway management using the pediatric GlideScope® in a child with Goldenhar syndrome and atypical plasma cholinesterase Academic Article
- An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases Conference Paper
- Answer to case of the month # 131. Carney triad. Academic Article
- Antimalarial-induced Cardiomyopathy in Systemic Lupus Erythematosus: As Rare as Considered? Academic Article
- Arterial thrombosis in children Academic Article
- Assessing 15 Proposals for Promoting Innovation and Access to Medicines Globally Academic Article
- Central nervous system bleeding in patients with rare bleeding disorders Academic Article
- Estimating the clinical cost of drug development for orphan versus non-orphan drugs Academic Article
- European Reference Networks and Guideline Development and Use: Challenges and Opportunities Academic Article
- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Academic Article
- Experience With Direct-to-Patient Recruitment for Enrollment Into a Clinical Trial in a Rare Disease: A Web-Based Study Academic Article
- GENERATING HEALTH TECHNOLOGY ASSESSMENT EVIDENCE FOR RARE DISEASES Academic Article
- Gastrointestinal carcinoid tumors in rare locations: imaging findings Academic Article
- High risk for RSV bronchiolitis in late preterms and selected infants affected by rare disorders: a dilemma of specific prevention Academic Article
- Integrated multidisciplinary care for the management of chronic conditions in adults: an overview of reviews and an example of using indirect evidence to inform clinical practice recommendations in the field of rare diseases Academic Article
- Limited GPA and Alpha-1 Antitrypsin Deficiency in a Pediatric Patient Academic Article
- Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases Academic Article
- Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network Academic Article
- Neonatal Hepatoblastoma: Two Cases Posing a Diagnostic Dilemma, with a Review of the Literature Academic Article
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Academic Article
- PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL Academic Article
- Rare disease registries: an initiative to establish vasculitis registry in Poland Academic Article
- Red ear syndrome: Literature review and a pediatric case report Academic Article
- Refractory urticaria and the importance of diagnosing Schnitzler’s syndrome Academic Article
- Relationship between neural crest cell specification and rare ocular diseases Academic Article
- Strategies for eliciting and synthesizing evidence for guidelines in rare diseases Academic Article
- Survival distributions impact the power of randomized placebo-phase design and parallel groups randomized clinical trials Academic Article
- The association of polythelia with segmentation defects of the vertebrae Academic Article
- Using Value-of-Information Methods when the Disease Is Rare and the Treatment Is Expensive—The Example of Hemophilia A Academic Article