Knowledge level of medical students and physicians about rare diseases in Lima, Peru

Poor education and urgent information need for emergency physicians about rare diseases in China

(2022) Lingli Zhou et al.   Orphanet Journal of Rare Diseases

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

(2022) Shruti Marwaha et al.   Genome Medicine

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

(2022) Stefan Kölker et al.   Frontiers in Endocrinology

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

(2022) Dariusz Walkowiak et al.   Frontiers in Public Health

Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional study

(2022) Reza Jahanshahi et al.   Orphanet Journal of Rare Diseases

Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

(2021) Xuefeng Li et al.   Orphanet Journal of Rare Diseases

Knowledge and Attitudes of Future Healthcare Professionals Toward Rare Diseases

(2021) Jan Domaradzki et al.   Frontiers in Genetics

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

(2021) Jian Guo et al.   Orphanet Journal of Rare Diseases

Socioeconomic characteristics and costs of rare and orphan diseases in Peru, 2019

(2021) Grecia Claussen Portocarrero et al.   Revista de la Facultad de Medicina Humana

Education and information needs for physicians about rare diseases in Spain

(2020) Enrique Ramalle-Gómara et al.   Orphanet Journal of Rare Diseases

The burden of rare diseases

(2019) Carlos R. Ferreira   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

(2019) Liese Vandeborne et al.   Orphanet Journal of Rare Diseases

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals

(2018) MT Lopes et al.   Clinics

The Global State of the Genetic Counseling Profession

(2018) MaryAnn Abacan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

(2017) Yvonne Zurynski et al.   Orphanet Journal of Rare Diseases

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

General knowledge and opinion of future health care and non-health care professionals on rare diseases

(2014) Enrique Ramalle-Gómara et al.   JOURNAL OF EVALUATION IN CLINICAL PRACTICE

Prioritizing treatment of rare diseases: A survey of preferences of Norwegian doctors

(2013) Arna S. Desser   SOCIAL SCIENCE & MEDICINE

Rare diseases and orphan drugs in Japan: developing multiple strategies of regulation and research

(2013) Peipei Song et al.   Expert Opinion on Orphan Drugs