selected publications
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academic article
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Human Genetics.
137.
2018
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy..
Human Molecular Genetics.
26.
2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Human Molecular Genetics.
25.
2016