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European Journal of Human Genetics : EJHG|April 17, 2014
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The NetherlandsStephanie S Weinreich, Astrid Bosma, Lidewij Henneman, et al.
Molecular Genetics and Metabolism|October 9, 2012
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screeningTessel Rigter, Stephanie S Weinreich, Carla G van El, et al.
European Journal of Human Genetics : EJHG|May 28, 2026
From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshopLoes Lindiwe Kreeftenberg, Lidewij Henneman, Tessel Rigter, et al.
Molecular Genetics and Metabolism|March 14, 2025
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHologyClara D M van Karnebeek, Annelieke R Müller, Laura Benkemoun, et al.
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