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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study
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Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation
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The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement
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Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
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Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia
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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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Mowat-Wilson syndrome : growth charts
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Late-onset Pompe disease (LOPD) in Belgium : clinical characteristics and outcome measures