Orphanet Journal of Rare Diseases | Evaluating the Efficiency of Online Sampling Strategies in Rare Disease Research

Orphanet Journal of Rare Diseases | Preferences and Attitudes toward Genetic Newborn Screening: A Systematic Literature Review

Orphanet Journal of Rare Diseases | Clinical and Genetic Analyses of 17 Chinese Patients with GSD IXc Reveal CHIT as a Novel Biomarker for Treatment Monitoring

Orphanet Journal of Rare Diseases | A Cross-Sectional Analysis of Pandemic Anxiety Levels and Their Correlates in People with Rare Diseases

Orphanet Journal of Rare Diseases | Healthcare Utilization Patterns and Costs Related to Neurofibromatosis Type 1 in Ontario

Orphanet Journal of Rare Diseases | Study on Metabolic Control and Quality of Life in Adult Phenylketonuria Patients After Transition

AI-Empowered Breakthroughs in Genetic Disease Research: Industry Pain Points and RDDC Solutions

What Is the BIPF Mouse? Understanding the IPF “Gold-Standard” Model and Key Gene ISM1