Publications by authors named "Courtney Ells"

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Heterozygous pathogenic variants involving cause a new skeletal disorder resembling cleidocranial dysplasia.
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Courtney Ells

J Med Genet· May 2023

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Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Gawa Bidla, David Watkins, Céline Chéry, D Sean Froese, Courtney Ells

Mol Genet Metab· July 2020

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