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Publications by Daniele Ghezzi

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

American Journal of Human Genetics
Genetics
2012English

Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy

Human Mutation
Genetics
2016English

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics
Genetics
2017English

VARS2andTARS2Mutations in Patients With Mitochondrial Encephalomyopathies

Human Mutation
Genetics
2014English

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

Frontiers in Genetics
GeneticsMolecular Medicine
2018English

Geomicrobiology of a Seawater-Influenced Active Sulfuric Acid Cave

PLoS ONE
Multidisciplinary
2019English

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