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List of works by Urania Kotzaeridou

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

scientific article

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

scientific article published on 5 November 2015

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