Gemma Iglesias

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

Dominant‐negative mutation p.Arg324Thr in <i>KCNA1</i> impairs Kv1.1 channel function in episodic ataxia

Enriqueta Tristán‐Clavijo, Francisco G. Scholl, Alfons Macaya et al. · Movement Disorders · 2016 · 23 citations

Life Sciences, Genetics, Neurology +17

Microbiology of Pediatric Primary Pulmonary Tuberculosis

José Merino, Teresa Álvarez, Manuel Noa Marrero et al. · CHEST Journal · 2001 · 17 citations

Medicine, Microbiology, Pediatrics +12