subject area of
- A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study Journal Articles
- ASPECTS OF PATIENT REPORTED OUTCOMES IN RARE DISEASES: A DISCUSSION PAPER Journal Articles
- Airway management using the pediatric GlideScope® in a child with Goldenhar syndrome and atypical plasma cholinesterase Journal Articles
- An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases Conferences
- Answer to case of the month # 131. Carney triad. Journal Articles
- Antimalarial-induced Cardiomyopathy in Systemic Lupus Erythematosus: As Rare as Considered? Journal Articles
- Arterial thrombosis in children Journal Articles
- Assessing 15 Proposals for Promoting Innovation and Access to Medicines Globally Journal Articles
- Central nervous system bleeding in patients with rare bleeding disorders Journal Articles
- Data sharing to advance gene‐targeted therapies in rare diseases Journal Articles
- Estimating the clinical cost of drug development for orphan versus non-orphan drugs Journal Articles
- European Reference Networks and Guideline Development and Use: Challenges and Opportunities Journal Articles
- Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study Journal Articles
- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease Journal Articles
- Experience With Direct-to-Patient Recruitment for Enrollment Into a Clinical Trial in a Rare Disease: A Web-Based Study Journal Articles
- GENERATING HEALTH TECHNOLOGY ASSESSMENT EVIDENCE FOR RARE DISEASES Journal Articles
- Gastrointestinal carcinoid tumors in rare locations: imaging findings Journal Articles
- Gene‐targeted therapies: Towards equitable development, diagnosis, and access Journal Articles
- Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease Journal Articles
- High risk for RSV bronchiolitis in late preterms and selected infants affected by rare disorders: a dilemma of specific prevention Journal Articles
- 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 Journal Articles
- Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network Journal Articles
- Left main coronary artery spasm: medical versus surgical management. Journal Articles
- Limited GPA and Alpha-1 Antitrypsin Deficiency in a Pediatric Patient Journal Articles
- Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases Journal Articles
- 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 Journal Articles
- Neonatal Hepatoblastoma: Two Cases Posing a Diagnostic Dilemma, with a Review of the Literature Journal Articles
- Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness Journal Articles
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Journal Articles
- PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL Journal Articles
- Parents' experiences of children with a rare disease attending a mainstream school: Australia Journal Articles
- Perceived Benefits and Facilitators and Barriers to Providing Psychosocial Interventions for Informal Caregivers of People with Rare Diseases: A Scoping Review. Journal Articles
- Perceived Benefits and Factors that Influence the Ability to Establish and Maintain Patient Support Groups in Rare Diseases: A Scoping Review. Journal Articles
- Rare disease registries: an initiative to establish vasculitis registry in Poland Journal Articles
- Red ear syndrome: Literature review and a pediatric case report Journal Articles
- Refractory urticaria and the importance of diagnosing Schnitzler’s syndrome Journal Articles
- Relationship between neural crest cell specification and rare ocular diseases Journal Articles
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries Journal Articles
- Strategies for eliciting and synthesizing evidence for guidelines in rare diseases Journal Articles
- Survival distributions impact the power of randomized placebo-phase design and parallel groups randomized clinical trials Journal Articles
- The association of polythelia with segmentation defects of the vertebrae Journal Articles
- Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium). Journal Articles
- Using Value-of-Information Methods when the Disease Is Rare and the Treatment Is Expensive—The Example of Hemophilia A Journal Articles