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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
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- Journal Article
- A1
- open access
Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia
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- Journal Article
- A1
- open access
Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation
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- Journal Article
- A1
- open access
Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
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- Journal Article
- A1
- open access
The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement
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- Journal Article
- A1
- open access
Myocardial disease and ventricular arrhythmia in Marfan syndrome : a prospective study
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- Journal Article
- A1
- open access
Mowat-Wilson syndrome : growth charts
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- Journal Article
- A1
- open access
Late-onset Pompe disease (LOPD) in Belgium : clinical characteristics and outcome measures
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- Journal Article
- A1
- open access
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
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- Journal Article
- A1
- open access
Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases