J. Colomer

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

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · Scientific Reports · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Sara Brito, Kyle Thompson, Jaume Campistol et al. · Frontiers in Genetics · 2015 · 21 citations · Full text

Medicine, Neurology, Pediatrics +17

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

Mercédes Pineda, Abelardo Solano, Rafael Artuch et al. · Pediatric Research · 2004 · 12 citations

Life Sciences, Genetics, Neurology +16

Ambulatory surgery: the need for indexes of substitution

J. Colomer · Ambulatory Surgery · 1993 · 10 citations

Medicine, Orthopedic Surgery, Surgery +10