January 18, 2017 article Open access Clinical Practice Guidelines for Rare Diseases: The Orphanet Database PLoS ONE DOI: 10.1371/journal.pone.0170365 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 192 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Methodological rigor of rare disease guidelines in Europe: a scoping review and critical appraisal 2026 Journal of Rare Diseases article Medicine Clinical practice guidelines implementation Open access 0 citations Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)? 2026 Clinical and Public Health Guidelines article Medicine Clinical practice guidelines implementation Open access 0 citations A qualitative study among guideline developers revealed challenges and strategies for rare disease guideline development 2025 Journal of Clinical Epidemiology article Medicine Clinical practice guidelines implementation Open access 2 citations Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 33 citations European Reference Networks: challenges and opportunities 2021 Journal of Community Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 80 citations An ensemble learning approach for modeling the systems biology of drug-induced injury 2021 Biology Direct article Computer Science Computational Drug Discovery Methods Open access 17 citations 6 results References 0