J. Colomer

Peripheral Neuropathy with Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA

R. Artuch, M. Pineda, J. Montoya, 2004, Pediatric Research.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.