Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
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Posted in Health Trends Health Trends - Australia

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

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Enrollment, research ethics and consent

A detailed description of the TRANSLATE NAMSE project is provided elsewhere9,70. In brief, participants for TRANSLATE NAMSE were recruited between January 2018 and December 2020 from a total of ten German CRDs (Berlin, Bochum, Bonn, Dresden, Duisburg/Essen,…

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