Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

(2015) Isobel Knight   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Diagnosing primary immunodeficiency: a practical approach for the non-immunologist

(2015) Heather Lehman et al.   CURRENT MEDICAL RESEARCH AND OPINION

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

(2015) Nathalie Guffon et al.   Orphanet Journal of Rare Diseases

Diagnostic Support for Selected Paediatric Pulmonary Diseases Using Answer-Pattern Recognition in Questionnaires Based on Combined Data Mining Applications—A Monocentric Observational Pilot Study

(2015) Ann-Katrin Rother et al.   PLoS One

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community

(2014) Ségolène Aymé et al.   Orphanet Journal of Rare Diseases

Overcoming the barriers to diagnosis of Morquio A syndrome

(2014) Kaustuv Bhattacharya et al.   Orphanet Journal of Rare Diseases

Consensus-based recommendations for investigating clinical heterogeneity in systematic reviews

(2013) Joel J Gagnier et al.   BMC Medical Research Methodology

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study

(2012) Renata Linertová et al.   HEALTH POLICY

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

(2012) Paola Pierucci et al.   Orphanet Journal of Rare Diseases

Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience

(2012) Cristiane Hallal et al.   PEDIATRIC SURGERY INTERNATIONAL

Joint hypermobility syndrome pain

(2009) Rodney Grahame   Current Pain and Headache Reports