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Publications by authors named "Daniel Beumer"

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A novel classification system for research reporting in rare and progressive genetic conditions.
Clara D M van Karnebeek, Daniël Beumer, Colleen Pawliuk, Helly Goez, Sara Mostafavi

Dev Med Child Neurol· October 2019


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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Daniel Beumer

Mol Genet Metab· September 2016


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