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List of works by Christiane Neuhofer

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

scientific article published on 13 January 2020

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

scientific article published on 04 August 2020

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